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.L87_F88insA

c.259_263ins3

Surrounding Variants

1 paper

NM_000875.5

p.L87P

c.260T>C

1 paper

NM_000875.5

p.L86_L87insA

c.256_260ins3

8 papers

NM_000875.5

p.R89*

c.265C>T

1 paper

NM_000875.5

p.R89Q

c.266G>A

1 paper

NM_000875.5

p.Y84C

c.251A>G

1 paper

NM_000875.5

p.Y84F

c.251A>T

1 paper

NM_000875.5

p.Y84D

c.250T>G

3 papers

NM_000875.5

p.G92S

c.274G>A

1 paper

NM_000875.5

p.L93I

c.277C>A

1 paper

NM_000875.5

p.L93R

c.278T>G

1 paper

NM_000875.5

p.E94del1

c.280_281delGAG

2 papers

NM_000875.5

p.E94K

c.280G>A