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.H1348L

c.4043A>T

Surrounding Variants

1 paper

NM_000875.5

p.M1349V

c.4045A>G

5 papers

NM_000875.5

p.A1347V

c.4040C>T

2 papers

NM_000875.5

p.Y1346Y

c.4038C>T

2 papers

NM_000875.5

p.Y1346C

c.4037A>G

1 paper

NM_000875.5

p.G1351R

c.4051G>A

1 paper

NM_000875.5

p.G1351R

c.4051G>C

1 paper

NM_000875.5

p.G1352A

c.4055G>C

3 papers

NM_000875.5

p.G1352V

c.4055G>T

2 papers

NM_000875.5

p.Q1344E

c.4030C>G

1 paper

NM_000875.5

p.R1353C

c.4057C>T

7 papers

NM_000875.5

p.R1353H

c.4058G>A

1 paper

NM_000875.5

p.R1343I

c.4028G>T