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

5 papers

NM_002609.4

p.Y581F

c.1742A>T

Surrounding Variants

1 paper

NM_002609.4

p.Y581H

c.1741T>C

2 papers

NM_002609.4

p.Y581Y

c.1743C>T

6 papers

NM_002609.4

p.Y579F

c.1736A>T

1 paper

NM_002609.4

p.V568_Y579delins

c.1703_1736delinsAGAGCCC

1 paper

NM_002609.4

p.Y579H

c.1735T>C

1 paper

NM_002609.4

p.P584L

c.1751C>T

37 papers

NM_002609.4

p.P584R

c.1751C>G

1 paper

NM_002609.4

p.E578V

c.1733A>T

1 paper

NM_002609.4

p.E578Q

c.1732G>C

1 paper

NM_002609.4

p.H577Q

c.1731T>G

1 paper

NM_002609.4

p.H577Q

c.1731T>A

1 paper

NM_002609.4

p.M585I

c.1755G>A