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

3 papers

NM_000875.5

p.V525I

c.1573G>A

Surrounding Variants

1 paper

NM_000875.5

p.Y527F

c.1580A>T

1 paper

NM_000875.5

p.Y527Y

c.1581C>T

1 paper

NM_000875.5

p.S522T

c.1565G>C

1 paper

NM_000875.5

p.I521T

c.1562T>C

2 papers

NM_000875.5

p.A530V

c.1589C>T

1 paper

NM_000875.5

p.A530Splc

c.1589+2T>G

1 paper

NM_000875.5

p.Y517F

c.1550A>T

1 paper

NM_000875.5

p.R518_I521del4

c.1552_1562del12

1 paper

NM_000875.5

p.P515S

c.1543C>T

1 paper

NM_000875.5

p.R513Q

c.1538G>A

2 papers

NM_000875.5

p.R513W

c.1537C>T

1 paper

NM_000875.5

p.Y512C

c.1535A>G