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.R279P

c.836G>C

Surrounding Variants

1 paper

NM_000875.5

p.R279H

c.836G>A

3 papers

NM_000875.5

p.R279C

c.835C>T

1 paper

NM_000875.5

p.C282R

c.844T>C

2 papers

NM_000875.5

p.C282Y

c.845G>A

1 paper

NM_000875.5

p.C276S

c.827G>C

1 paper

NM_000875.5

p.C276S

c.826T>A

1 paper

NM_000875.5

p.A283T

c.847G>A

1 paper

NM_000875.5

p.A283P

c.847G>C

3 papers

NM_000875.5

p.N284Y

c.850A>T

1 paper

NM_000875.5

p.W274*

c.822G>A

1 paper

NM_000875.5

p.W274*

c.821G>A

2 papers

NM_000875.5

p.I285N

c.854T>A