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.Y254D

c.760T>G

Surrounding Variants

1 paper

NM_000875.5

p.Y254H

c.760T>C

1 paper

NM_000875.5

p.Y254F

c.761A>T

2 papers

NM_000875.5

p.R252H

c.755G>A

2 papers

NM_000875.5

p.R252C

c.754C>T

1 paper

NM_000875.5

p.C251S

c.752G>C

1 paper

NM_000875.5

p.C251S

c.751T>A

1 paper

NM_000875.5

p.G258S

c.772G>A

2 papers

NM_000875.5

p.G258V

c.773G>T

1 paper

NM_000875.5

p.V259I

c.775G>A

1 paper

NM_000875.5

p.C248W

c.744T>G

1 paper

NM_000875.5

p.P262_R275delFs

c.784_823del40

2 papers

NM_000875.5

p.T246A

c.736A>G