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.S153S

c.459C>T

Surrounding Variants

1 paper

NM_000875.5

p.T154insFs

c.460dupA

1 paper

NM_000875.5

p.L149L

c.447C>A

1 paper

NM_000875.5

p.L149L

c.447C>G

1 paper

NM_000875.5

p.L149V

c.445C>G

1 paper

NM_000875.5

p.L159insFs

c.476dupT

1 paper

NM_000875.5

p.L159V

c.475C>G

1 paper

NM_000875.5

p.L159P

c.476T>C

1 paper

NM_000875.5

p.L159L

c.477G>T

1 paper

NM_000875.5

p.A147V

c.440C>T

1 paper

NM_000875.5

p.L161V

c.481C>G

9 papers

NM_000875.5

p.K145N

c.435A>C

1 paper

NM_000875.5

p.K145K

c.435A>G