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

2 papers

NM_000875.5

p.C455R

c.1363T>C

Surrounding Variants

1 paper

NM_000875.5

p.V456fs

c.1366_1367fs

3 papers

NM_000875.5

p.E458K

c.1372G>A

2 papers

NM_000875.5

p.R461C

c.1381C>T

4 papers

NM_000875.5

p.R461H

c.1382G>A

7 papers

NM_000875.5

p.R461L

c.1382G>T

2 papers

NM_000875.5

p.M462R

c.1385T>G

1 paper

NM_000875.5

p.Y447C

c.1340A>G

1 paper

NM_000875.5

p.E463K

c.1387G>A

1 paper

NM_000875.5

p.E463G

c.1388A>G

2 papers

NM_000875.5

p.M446I

c.1338G>A

2 papers

NM_000875.5

p.M446I

c.1338G>C

2 papers

NM_000875.5

p.M446I

c.1338G>T