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.N166D

c.496A>G

Surrounding Variants

1 paper

NM_000875.5

p.S165F

c.494C>T

1 paper

NM_000875.5

p.S165P

c.493T>C

1 paper

NM_000875.5

p.N167S

c.500A>G

1 paper

NM_000875.5

p.V164G

c.491T>G

1 paper

NM_000875.5

p.A163V

c.488C>T

1 paper

NM_000875.5

p.I169insFs

c.506dupT

1 paper

NM_000875.5

p.D162N

c.484G>A

1 paper

NM_000875.5

p.V170M

c.508G>A

1 paper

NM_000875.5

p.V170A

c.509T>C

1 paper

NM_000875.5

p.G171delFs

c.512delG

1 paper

NM_000875.5

p.L161V

c.481C>G

1 paper

NM_000875.5

p.G171R

c.511G>C