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.V1333M

c.3997G>A

Surrounding Variants

2 papers

NM_000875.5

p.G1332R

c.3994G>A

2 papers

NM_000875.5

p.G1332R

c.3994G>C

1 paper

NM_000875.5

p.V1335F

c.4003G>T

2 papers

NM_000875.5

p.G1330V

c.3989G>T

3 papers

NM_000875.5

p.G1330S

c.3988G>A

6 papers

NM_000875.5

p.R1337C

c.4009C>T

2 papers

NM_000875.5

p.R1337H

c.4010G>A

1 paper

NM_000875.5

p.R1337R

c.4011C>T

4 papers

NM_000875.5

p.A1338T

c.4012G>A

2 papers

NM_000875.5

p.G1328S

c.3982G>A

1 paper

NM_000875.5

p.A1338S

c.4012G>T

4 papers

NM_000875.5

p.N1327D

c.3979A>G