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.Y1251C

c.3752A>G

Surrounding Variants

11 papers

NM_000875.5

p.Y1251F

c.3752A>T

1 paper

NM_000875.5

p.P1253insFs

c.3759dupC

1 paper

NM_000875.5

p.N1252S

c.3755A>G

6 papers

NM_000875.5

p.Q1250*

c.3748C>T

5 papers

NM_000875.5

p.W1249*

c.3747G>A

1 paper

NM_000875.5

p.W1249C

c.3747G>C

1 paper

NM_000875.5

p.W1249C

c.3747G>T

5 papers

NM_000875.5

p.W1249*

c.3746G>A

1 paper

NM_000875.5

p.W1249L

c.3746G>T

1 paper

NM_000875.5

p.K1254fs

c.3760_3761fs

3 papers

NM_000875.5

p.C1248Y

c.3743G>A

1 paper

NM_000875.5

p.K1254N

c.3762G>C