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.L181Q

c.542T>A

Surrounding Variants

1 paper

NM_000875.5

p.L181M

c.541C>A

1 paper

NM_000875.5

p.L181L

c.541C>T

1 paper

NM_000875.5

p.P183insFs

c.547_548insA

1 paper

NM_000875.5

p.G179Fs

c.537delinsAGFs

1 paper

NM_000875.5

p.G184fs

c.550_551fs

2 papers

NM_000875.5

p.E177A

c.530A>C

1 paper

NM_000875.5

p.T185_M191delFs

c.555_573del19

1 paper

NM_000875.5

p.M186L

c.556A>C

2 papers

NM_000875.5

p.M186V

c.556A>G

1 paper

NM_000875.5

p.M186L

c.556A>T

1 paper

NM_000875.5

p.M186_E188del0

c.557_562del6

1 paper

NM_000875.5

p.E187delFs

c.559delG