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.K145K

c.435A>G

Surrounding Variants

9 papers

NM_000875.5

p.K145N

c.435A>C

9 papers

NM_000875.5

p.K145N

c.435A>T

1 paper

NM_000875.5

p.K145E

c.433A>G

1 paper

NM_000875.5

p.A147V

c.440C>T

1 paper

NM_000875.5

p.L149V

c.445C>G

1 paper

NM_000875.5

p.R142K

c.425G>A

1 paper

NM_000875.5

p.R142M

c.425G>T

1 paper

NM_000875.5

p.L149L

c.447C>A

1 paper

NM_000875.5

p.L149L

c.447C>G

3 papers

NM_000875.5

p.R142_I143delFs

c.424_427del4

1 paper

NM_000875.5

p.A140fs

c.418_419fs

1 paper

NM_000875.5

p.A140S

c.418G>T