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.D583_Q586del0

c.1748_1756del9

Surrounding Variants

2 papers

NM_002609.4

p.L587L

c.1759C>T

1 paper

NM_002609.4

p.L587P

c.1760T>C

1 paper

NM_002609.4

p.M585I

c.1755G>A

2 papers

NM_002609.4

p.Y589D

c.1765T>G

4 papers

NM_002609.4

p.Y589H

c.1765T>C

1 paper

NM_002609.4

p.Y589N

c.1765T>A

1 paper

NM_002609.4

p.P584L

c.1751C>T

37 papers

NM_002609.4

p.P584R

c.1751C>G

2 papers

NM_002609.4

p.Y589F

c.1766A>T

4 papers

NM_002609.4

p.Y589C

c.1766A>G

1 paper

NM_002609.4

p.M585_D590delFs

c.1755_1768del14

2 papers

NM_002609.4

p.Y581Y

c.1743C>T