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.L399L

c.1195T>C

Surrounding Variants

1 paper

NM_000875.5

p.L399M

c.1195T>A

1 paper

NM_000875.5

p.L399insFs

c.1196dupT

1 paper

NM_000875.5

p.S398S

c.1194C>T

5 papers

NM_000875.5

p.V397_S398insFs

c.1191_1192insG

1 paper

NM_000875.5

p.L402fs

c.1204_1205fs

1 paper

NM_000875.5

p.N404insFs

c.1211dupA

1 paper

NM_000875.5

p.K403delFs

c.1209delA

1 paper

NM_000875.5

p.L402L

c.1206A>T

1 paper

NM_000875.5

p.A395T

c.1183G>A

1 paper

NM_000875.5

p.N404fs

c.1210_1211fs

1 paper

NM_000875.5

p.H394Y

c.1180C>T

1 paper

NM_000875.5

p.S393F

c.1178C>T