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.M1270V

c.3808A>G

Surrounding Variants

1 paper

NM_000875.5

p.M1270delFs

c.3810delG

1 paper

NM_000875.5

p.E1271G

c.3812A>G

1 paper

NM_000875.5

p.E1268insFs

c.3802dupG

1 paper

NM_000875.5

p.K1267fs

c.3799_3800fs

1 paper

NM_000875.5

p.G1273C

c.3817G>T

2 papers

NM_000875.5

p.I1266I

c.3798C>T

1 paper

NM_000875.5

p.G1273V

c.3818G>T

1 paper

NM_000875.5

p.R1275W

c.3823C>T

5 papers

NM_000875.5

p.R1275Q

c.3824G>A

1 paper

NM_000875.5

p.R1275L

c.3824G>T

2 papers

NM_000875.5

p.E1276D

c.3828G>C

2 papers

NM_000875.5

p.E1276D

c.3828G>T