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.Q426L

c.1277A>T

Surrounding Variants

1 paper

NM_000875.5

p.N427S

c.1280A>G

1 paper

NM_000875.5

p.D424N

c.1270G>A

3 papers

NM_000875.5

p.D424_N427del4

c.1270_1280del12

1 paper

NM_000875.5

p.W432*

c.1295G>A

1 paper

NM_000875.5

p.W432*

c.1296G>A

1 paper

NM_000875.5

p.F420L

c.1258T>C

1 paper

NM_000875.5

p.D433N

c.1297G>A

1 paper

NM_000875.5

p.D433Y

c.1297G>T

1 paper

NM_000875.5

p.W434*

c.1301G>A

1 paper

NM_000875.5

p.W434*

c.1302G>A

1 paper

NM_000875.5

p.Y418H

c.1252T>C

1 paper

NM_000875.5

p.D435N

c.1303G>A