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.F377L

c.1131C>A

Surrounding Variants

1 paper

NM_000875.5

p.F377L

c.1131C>G

1 paper

NM_000875.5

p.F377L

c.1129T>C

1 paper

NM_000875.5

p.M378I

c.1134G>A

1 paper

NM_000875.5

p.M378I

c.1134G>C

1 paper

NM_000875.5

p.M378I

c.1134G>T

5 papers

NM_000875.5

p.E375E

c.1125G>A

1 paper

NM_000875.5

p.E375D

c.1125G>C

1 paper

NM_000875.5

p.L380R

c.1139T>G

1 paper

NM_000875.5

p.I381M

c.1143C>G

1 paper

NM_000875.5

p.E373G

c.1118A>G

2 papers

NM_000875.5

p.E382K

c.1144G>A

1 paper

NM_000875.5

p.S372T

c.1114T>A