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.H436R

c.1307A>G

Surrounding Variants

2 papers

NM_000875.5

p.R437C

c.1309C>T

16 papers

NM_000875.5

p.R437H

c.1310G>A

1 paper

NM_000875.5

p.D435N

c.1303G>A

1 paper

NM_000875.5

p.D435Y

c.1303G>T

1 paper

NM_000875.5

p.W434*

c.1302G>A

1 paper

NM_000875.5

p.W434*

c.1301G>A

1 paper

NM_000875.5

p.D433N

c.1297G>A

1 paper

NM_000875.5

p.D433Y

c.1297G>T

1 paper

NM_000875.5

p.W432*

c.1296G>A

1 paper

NM_000875.5

p.W432*

c.1295G>A

1 paper

NM_000875.5

p.T440T

c.1320C>T

1 paper

NM_000875.5

p.I441V

c.1321A>G