Varaico: Literature-Extracted Genetic Variants

PDGFRB

1,423 papers

RefSeq Summary

The protein encoded by this gene is a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin....

Pfam Domains

igaa 40–113UCSCImmunoglobulin domain

Ig_3aa 213–294UCSCImmunoglobulin domain

I-setaa 327–413UCSCImmunoglobulin I-set domain

Ig_PDGFR_d4aa 417–556UCSCPlatelet-derived growth factor receptor Ig-like domain 4

PK_Tyr_Ser-Thraa 600–958UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

platelet derived growth factor receptor beta

HGNC Previous Symbol

PDGFR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002609.4

p.C671S

c.2011T>A

Surrounding Variants

1 paper

NM_002609.4

p.C671S

c.2012G>C

1 paper

NM_002609.4

p.A670T

c.2008G>A

1 paper

NM_002609.4

p.G669E

c.2006G>A

2 papers

NM_002609.4

p.G669R

c.2005G>C

3 papers

NM_002609.4

p.G669R

c.2005G>A

1 paper

NM_002609.4

p.G674R

c.2020G>C

1 paper

NM_002609.4

p.G674R

c.2020G>A

1 paper

NM_002609.4

p.G675Splc

c.2023+1G>A

1 paper

NM_002609.4

p.N666N

c.1998C>T

57 papers

NM_002609.4

p.N666K

c.1998C>G

57 papers

NM_002609.4

p.N666K

c.1998C>A

30 papers

NM_002609.4

p.N666S

c.1997A>G