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.W109R

c.325T>C

Surrounding Variants

1 paper

NM_000875.5

p.W109R

c.325T>A

2 papers

NM_000875.5

p.W109C

c.327G>C

2 papers

NM_000875.5

p.W109C

c.327G>T

1 paper

NM_000875.5

p.G108fs

c.322_323fs

2 papers

NM_000875.5

p.F112L

c.334T>C

2 papers

NM_000875.5

p.F112L

c.336C>A

2 papers

NM_000875.5

p.F112L

c.336C>G

1 paper

NM_000875.5

p.T104T

c.312G>A

1 paper

NM_000875.5

p.T104M

c.311C>T

2 papers

NM_000875.5

p.N114S

c.341A>G

1 paper

NM_000875.5

p.Y115N

c.343T>A

1 paper

NM_000875.5

p.Y115S

c.344A>C