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.H392Y

c.1174C>T

Surrounding Variants

1 paper

NM_000875.5

p.H392R

c.1175A>G

1 paper

NM_000875.5

p.H392L

c.1175A>T

2 papers

NM_000875.5

p.R391H

c.1172G>A

3 papers

NM_000875.5

p.R391C

c.1171C>T

1 paper

NM_000875.5

p.S393F

c.1178C>T

1 paper

NM_000875.5

p.I390V

c.1168A>G

1 paper

NM_000875.5

p.H394Y

c.1180C>T

3 papers

NM_000875.5

p.K389T

c.1166A>C

1 paper

NM_000875.5

p.A395T

c.1183G>A

1 paper

NM_000875.5

p.V388E

c.1163T>A

1 paper

NM_000875.5

p.V388_K389delFs

c.1164_1165delGA

6 papers

NM_000875.5

p.V388M

c.1162G>A