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.E121*

c.361G>T

Surrounding Variants

11 papers

NM_000875.5

p.E121K

c.361G>A

1 paper

NM_000875.5

p.E121E

c.363G>A

2 papers

NM_000875.5

p.I119M

c.357C>G

2 papers

NM_000875.5

p.V118V

c.354C>T

1 paper

NM_000875.5

p.N124D

c.370A>G

1 paper

NM_000875.5

p.V118F

c.352G>T

1 paper

NM_000875.5

p.N124S

c.371A>G

1 paper

NM_000875.5

p.L117fs

c.349_350fs

2 papers

NM_000875.5

p.K126Q

c.376A>C

1 paper

NM_000875.5

p.K126_I141delFs

c.377_423del47

2 papers

NM_000875.5

p.A116T

c.346G>A

1 paper

NM_000875.5

p.Y115S

c.344A>C