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.S1278S

c.3834C>T

Surrounding Variants

1 paper

NM_000875.5

p.S1278F

c.3833C>T

1 paper

NM_000875.5

p.F1279del1

c.3835_3836delTTC

1 paper

NM_000875.5

p.V1277D

c.3830T>A

2 papers

NM_000875.5

p.E1276D

c.3828G>C

2 papers

NM_000875.5

p.E1276D

c.3828G>T

5 papers

NM_000875.5

p.R1275Q

c.3824G>A

1 paper

NM_000875.5

p.R1275L

c.3824G>T

1 paper

NM_000875.5

p.R1275W

c.3823C>T

1 paper

NM_000875.5

p.S1282N

c.3845G>A

1 paper

NM_000875.5

p.E1284del1

c.3850_3851delGAG

4 papers

NM_000875.5

p.E1283K

c.3847G>A

1 paper

NM_000875.5

p.G1273V

c.3818G>T