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

4 papers

NM_000875.5

p.K1055R

c.3164A>G

Surrounding Variants

1 paper

NM_000875.5

p.K1055T

c.3164A>C

1 paper

NM_000875.5

p.K1055Q

c.3163A>C

1 paper

NM_000875.5

p.K1055E

c.3163A>G

1 paper

NM_000875.5

p.K1055*

c.3163A>T

3 papers

NM_000875.5

p.M1054I

c.3162G>A

1 paper

NM_000875.5

p.E1056K

c.3166G>A

3 papers

NM_000875.5

p.M1054I

c.3162G>C

3 papers

NM_000875.5

p.M1054I

c.3162G>T

2 papers

NM_000875.5

p.E1056G

c.3167A>G

1 paper

NM_000875.5

p.E1056V

c.3167A>T

1 paper

NM_000875.5

p.F1057Y

c.3170T>A

1 paper

NM_000875.5

p.N1058D

c.3172A>G