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

1 paper

NM_000875.5

p.Y644C

c.1931A>G

Surrounding Variants

1 paper

NM_000875.5

p.Y644F

c.1931A>T

1 paper

NM_000875.5

p.V646L

c.1936G>C

1 paper

NM_000875.5

p.V646L

c.1936G>T

1 paper

NM_000875.5

p.S642insFs

c.1926dupT

1 paper

NM_000875.5

p.L641L

c.1923G>C

1 paper

NM_000875.5

p.R647H

c.1940G>A

2 papers

NM_000875.5

p.G639D

c.1916G>A

1 paper

NM_000875.5

p.G639S

c.1915G>A

1 paper

NM_000875.5

p.R650G

c.1948C>G

1 paper

NM_000875.5

p.R650W

c.1948C>T

1 paper

NM_000875.5

p.N638S

c.1913A>G

3 papers

NM_000875.5

p.R650Q

c.1949G>A