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.E306Q

c.916G>C

Surrounding Variants

1 paper

NM_000875.5

p.Q305L

c.914A>T

1 paper

NM_000875.5

p.P308T

c.922C>A

1 paper

NM_000875.5

p.P308S

c.922C>T

1 paper

NM_000875.5

p.P308L

c.923C>T

2 papers

NM_000875.5

p.S309A

c.925T>G

5 papers

NM_000875.5

p.S309L

c.926C>T

1 paper

NM_000875.5

p.G310S

c.928G>A

1 paper

NM_000875.5

p.G310insFs

c.928_929ins4

1 paper

NM_000875.5

p.G310fs

c.928_929fs

3 papers

NM_000875.5

p.E302*

c.904G>T

1 paper

NM_000875.5

p.G301G

c.903C>T

3 papers

NM_000875.5

p.G310D

c.929G>A