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

1–12 of 1279 variants

21 papers

NM_000875.5

p.E1050K

c.3148G>A

18 papers

NM_000875.5

p.R511Q

c.1532G>A

16 papers

NM_000875.5

p.R437H

c.1310G>A

13 papers

NM_000875.5

p.R739Q

c.2216G>A

12 papers

NM_000875.5

p.Y387*

c.1161C>A

12 papers

NM_000875.5

p.Y387*

c.1161C>G

11 papers

NM_000875.5

p.E121K

c.361G>A

11 papers

NM_000875.5

p.E234K

c.700G>A

11 papers

NM_000875.5

p.V629E

c.1886T>A

11 papers

NM_000875.5

p.Y1251F

c.3752A>T

10 papers

NM_000875.5

p.G1155A

c.3464G>C

9 papers

NM_000875.5

p.R138Q

c.413G>A