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.N792D

c.2374A>G

Surrounding Variants

3 papers

NM_000875.5

p.R794W

c.2380C>T

1 paper

NM_000875.5

p.T788I

c.2363C>T

1 paper

NM_000875.5

p.R787G

c.2359A>G

1 paper

NM_000875.5

p.K785E

c.2353A>G

1 paper

NM_000875.5

p.R800_I801delFs

c.2398_2401del4

1 paper

NM_000875.5

p.R800H

c.2399G>A

1 paper

NM_000875.5

p.R800L

c.2399G>T

1 paper

NM_000875.5

p.D783G

c.2348A>G

1 paper

NM_000875.5

p.R781K

c.2342G>A

2 papers

NM_000875.5

p.R781T

c.2342G>C

1 paper

NM_000875.5

p.S780R

c.2340C>A

1 paper

NM_000875.5

p.S780R

c.2340C>G