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

7 papers

NM_000875.5

p.R471C

c.1411C>T

Surrounding Variants

3 papers

NM_000875.5

p.R471H

c.1412G>A

1 paper

NM_000875.5

p.S473N

c.1418G>A

1 paper

NM_000875.5

p.T468A

c.1402A>G

1 paper

NM_000875.5

p.G475W

c.1423G>T

2 papers

NM_000875.5

p.T466M

c.1397C>T

1 paper

NM_000875.5

p.V465V

c.1395G>A

1 paper

NM_000875.5

p.E464V

c.1391A>T

1 paper

NM_000875.5

p.E463D

c.1389G>C

1 paper

NM_000875.5

p.E463D

c.1389G>T

1 paper

NM_000875.5

p.E463G

c.1388A>G

1 paper

NM_000875.5

p.E463K

c.1387G>A

2 papers

NM_000875.5

p.M462R

c.1385T>G