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.E489D

c.1467A>T

Surrounding Variants

1 paper

NM_000875.5

p.E489D

c.1467A>C

1 paper

NM_000875.5

p.C488W

c.1464T>G

1 paper

NM_000875.5

p.V492I

c.1474G>A

1 paper

NM_000875.5

p.L493delFs

c.1477delC

1 paper

NM_000875.5

p.C488Splc

c.1463-5C>A

1 paper

NM_000875.5

p.H494Y

c.1480C>T

1 paper

NM_000875.5

p.H494L

c.1481A>T

1 paper

NM_000875.5

p.H494Q

c.1482T>G

1 paper

NM_000875.5

p.T498I

c.1493C>T

1 paper

NM_000875.5

p.T500A

c.1498A>G

1 paper

NM_000875.5

p.T500M

c.1499C>T

1 paper

NM_000875.5

p.S501ins2

c.1502_1503ins6