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.P174H

c.521C>A

Surrounding Variants

1 paper

NM_000875.5

p.K173_P174delFs

c.518_521del4

1 paper

NM_000875.5

p.N172fs

c.514_515fs

2 papers

NM_000875.5

p.E177A

c.530A>C

2 papers

NM_000875.5

p.G171E

c.512G>A

1 paper

NM_000875.5

p.G171R

c.511G>C

1 paper

NM_000875.5

p.V170A

c.509T>C

1 paper

NM_000875.5

p.G171delFs

c.512delG

1 paper

NM_000875.5

p.V170M

c.508G>A

1 paper

NM_000875.5

p.G179Fs

c.537delinsAGFs

1 paper

NM_000875.5

p.I169insFs

c.506dupT

1 paper

NM_000875.5

p.L181M

c.541C>A

1 paper

NM_000875.5

p.L181L

c.541C>T