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.G483R

c.1447G>A

Surrounding Variants

1 paper

NM_000875.5

p.G483R

c.1447G>C

2 papers

NM_000875.5

p.R485I

c.1454G>T

1 paper

NM_000875.5

p.A486delFs

c.1457delC

1 paper

NM_000875.5

p.S487fs

c.1459_1460fs

1 paper

NM_000875.5

p.S487fs

c.1459_1460fs

1 paper

NM_000875.5

p.S487F

c.1460C>T

1 paper

NM_000875.5

p.C488W

c.1464T>G

1 paper

NM_000875.5

p.G475W

c.1423G>T

1 paper

NM_000875.5

p.S473N

c.1418G>A

3 papers

NM_000875.5

p.R471H

c.1412G>A

7 papers

NM_000875.5

p.R471C

c.1411C>T

1 paper

NM_000875.5

p.T468A

c.1402A>G