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Literature summary for 2.7.10.1 extracted from

  • Li, E.; Hristova, K.
    Role of receptor tyrosine kinase transmembrane domains in cell signaling and human pathologies (2006), Biochemistry, 45, 6241-6251.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 2.7.10.1

Protein Variants

Protein Variants Comment Organism
A391E the mutation is linked to Crouzon syndrome with acanthosis nigricans and bladder cancer Homo sapiens
C379R the mutation is linked to osteoglophonic dysplasia Homo sapiens
G370C the mutation is linked to thanatophoric dysplasia I and bladder cancer Homo sapiens
G375C the mutation is linked to achondroplasia, the most common form of human dwarfism Homo sapiens
G380R the mutation is linked to achondroplasia with acanthosis nigricans Homo sapiens
G380R the mutation is linked to achondroplasia, the most common form of human dwarfism Homo sapiens
G382D the mutation is linked to multiple myeloma Homo sapiens
G388R the mutation is linked to tumor progression Homo sapiens
I654V the mutation is linked to increased risk of breast cancer Homo sapiens
S371C the mutation is linked to thanatophoric dysplasia I Homo sapiens
S372C the mutation is linked to Beare-Stevenson cutis gyrata syndrome Homo sapiens
T373C the mutation is linked to thanatophoric dysplasia I and bladder cancer Homo sapiens
V381E the mutation is linked to hypochondroplasia Homo sapiens
Y372C the mutation is linked to osteoglophonic dysplasia Homo sapiens
Y375C the mutation is linked to Beare-Stevenson cutis gyrata syndrome Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Synonyms

Synonyms Comment Organism
ErbB2
-
 Homo sapiens
FGFR1
-
 Homo sapiens
FGFR2
-
 Homo sapiens
FGFR3
-
 Homo sapiens
FGFR4
-
 Homo sapiens
receptor tyrosine kinase
-
 Homo sapiens
RTK
-
 Homo sapiens