Varaico: Literature-Extracted Genetic Variants

IGF1R

983 papers

RefSeq Summary

This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage...

Pfam Domains

Recep_L_domainaa 51–161UCSCReceptor L domain

Furin-likeaa 175–333UCSCFurin-like cysteine rich region

Recep_L_domainaa 352–466UCSCReceptor L domain

PK_Tyr_Ser-Thraa 999–1266UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

insulin like growth factor 1 receptor

HGNC Alias Symbols

JTK13; CD221; IGFIR; MGC18216; IGFR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

11 papers

NM_000875.5

p.V629E

c.1886T>A

Surrounding Variants

1 paper

NM_000875.5

p.V629M

c.1885G>A

1 paper

NM_000875.5

p.V629L

c.1885G>C

1 paper

NM_000875.5

p.V629L

c.1885G>T

1 paper

NM_000875.5

p.I628L

c.1882A>C

1 paper

NM_000875.5

p.Q626*

c.1876C>T

1 paper

NM_000875.5

p.P633T

c.1897C>A

1 paper

NM_000875.5

p.P633S

c.1897C>T

1 paper

NM_000875.5

p.S625F

c.1874C>T

1 paper

NM_000875.5

p.S624fs

c.1870_1871fs

1 paper

NM_000875.5

p.S623F

c.1868C>T

1 paper

NM_000875.5

p.S635F

c.1904C>T

1 paper

NM_000875.5

p.S623insFs

c.1869dupC