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.Y447C

c.1340A>G

Surrounding Variants

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

3 papers

NM_000875.5

p.M446V

c.1336A>G

1 paper

NM_000875.5

p.G444E

c.1331G>A

1 paper

NM_000875.5

p.I441V

c.1321A>G

1 paper

NM_000875.5

p.T440T

c.1320C>T

2 papers

NM_000875.5

p.C455R

c.1363T>C

1 paper

NM_000875.5

p.V456fs

c.1366_1367fs

16 papers

NM_000875.5

p.R437H

c.1310G>A

2 papers

NM_000875.5

p.R437C

c.1309C>T

3 papers

NM_000875.5

p.E458K

c.1372G>A