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.L62insFs

c.185_186insG

Surrounding Variants

2 papers

NM_000875.5

p.L62P

c.185T>C

2 papers

NM_000875.5

p.L62R

c.185T>G

1 paper

NM_000875.5

p.L62insFs

c.185_186insA

1 paper

NM_000875.5

p.L62M

c.184C>A

1 paper

NM_000875.5

p.I64S

c.191T>G

1 paper

NM_000875.5

p.H60_I61insACA

c.178_182ins9

1 paper

NM_000875.5

p.I64M

c.192C>G

1 paper

NM_000875.5

p.L59F

c.175C>T

1 paper

NM_000875.5

p.K66E

c.196A>G

1 paper

NM_000875.5

p.Y58F

c.173A>T

1 paper

NM_000875.5

p.G57G

c.171C>T

3 papers

NM_000875.5

p.A67T

c.199G>A