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.L1260delFs

c.3780delG

Surrounding Variants

1 paper

NM_000875.5

p.E1261D

c.3783G>C

1 paper

NM_000875.5

p.E1261D

c.3783G>T

1 paper

NM_000875.5

p.I1262L

c.3784A>C

1 paper

NM_000875.5

p.I1262V

c.3784A>G

1 paper

NM_001291858.2

p.S1257F

c.3770C>T

1 paper

NM_000875.5

p.I1263V

c.3787A>G

1 paper

NM_000875.5

p.P1257L

c.3770C>T

4 papers

NM_000875.5

p.P1257S

c.3769C>T

6 papers

NM_000875.5

p.R1256S

c.3768G>C

7 papers

NM_000875.5

p.R1256S

c.3768G>T

4 papers

NM_000875.5

p.M1255I

c.3765G>A

4 papers

NM_000875.5

p.M1255I

c.3765G>C