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.S240N

c.719G>A

Surrounding Variants

1 paper

NM_000875.5

p.A241_P242delFs

c.723_724delGC

1 paper

NM_000875.5

p.A241T

c.721G>A

1 paper

NM_000875.5

p.A241fs

c.721_722fs

1 paper

NM_000875.5

p.A241V

c.722C>T

1 paper

NM_000875.5

p.D243H

c.727G>C

1 paper

NM_000875.5

p.G237R

c.709G>C

1 paper

NM_000875.5

p.G237C

c.709G>T

1 paper

NM_000875.5

p.N244K

c.732C>A

1 paper

NM_000875.5

p.L236V

c.706C>G

1 paper

NM_000875.5

p.N244K

c.732C>G

1 paper

NM_000875.5

p.N244N

c.732C>T

1 paper

NM_000875.5

p.D245N

c.733G>A