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.G1322R

c.3964G>C

Surrounding Variants

1 paper

NM_000875.5

p.G1322R

c.3964G>A

1 paper

NM_000875.5

p.S1321*

c.3962C>A

1 paper

NM_000875.5

p.S1321*

c.3962C>G

1 paper

NM_000875.5

p.H1323Q

c.3969C>A

1 paper

NM_000875.5

p.H1323Q

c.3969C>G

1 paper

NM_000875.5

p.K1324R

c.3971A>G

2 papers

NM_000875.5

p.K1324N

c.3972G>C

2 papers

NM_000875.5

p.K1324N

c.3972G>T

1 paper

NM_000875.5

p.D1318D

c.3954C>T

1 paper

NM_000875.5

p.E1326K

c.3976G>A

1 paper

NM_000875.5

p.D1318H

c.3952G>C

1 paper

NM_000875.5

p.D1318Y

c.3952G>T