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

10 papers

NM_000875.5

p.G1155A

c.3464G>C

Surrounding Variants

1 paper

NM_000875.5

p.T1157M

c.3470C>T

2 papers

NM_000875.5

p.Y1161C

c.3482A>G

1 paper

NM_000875.5

p.E1162K

c.3484G>A

1 paper

NM_000875.5

p.E1162A

c.3485A>C

1 paper

NM_000875.5

p.T1163A

c.3487A>G

1 paper

NM_000875.5

p.D1164_Y1165del2

c.3490_3494del6

1 paper

NM_000875.5

p.Y1165C

c.3494A>G

1 paper

NM_000875.5

p.R1167W

c.3499C>T

1 paper

NM_000875.5

p.K1168delFs

c.3503_3504delAA

2 papers

NM_000875.5

p.G1169R

c.3505G>A

1 paper

NM_000875.5

p.G1169R

c.3505G>C

1 paper

NM_000875.5

p.G1169A

c.3506G>C