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.G1187R

c.3559G>A

Surrounding Variants

1 paper

NM_000875.5

p.G1187R

c.3559G>C

1 paper

NM_000875.5

p.V1188V

c.3564C>A

3 papers

NM_000875.5

p.S1193L

c.3578C>T

2 papers

NM_000875.5

p.S1180Y

c.3539C>A

2 papers

NM_000875.5

p.S1180F

c.3539C>T

2 papers

NM_000875.5

p.V1195I

c.3583G>A

1 paper

NM_000875.5

p.W1178R

c.3532T>A

1 paper

NM_000875.5

p.W1178R

c.3532T>C

2 papers

NM_000875.5

p.W1196*

c.3587G>A

4 papers

NM_000875.5

p.R1177H

c.3530G>A

2 papers

NM_000875.5

p.W1196*

c.3588G>A

1 paper

NM_000875.5

p.R1177L

c.3530G>T