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

2 papers

NM_002609.4

p.L602fs

c.1804_1805fs

Surrounding Variants

3 papers

NM_002609.4

p.L602delFs

c.1804delG

1 paper

NM_002609.4

p.V601A

c.1802T>C

2 papers

NM_002609.4

p.L600H

c.1799T>A

1 paper

NM_002609.4

p.G603delFs

c.1807delC

1 paper

NM_002609.4

p.L600delins

c.1798delinsTACA

1 paper

NM_002609.4

p.D598N

c.1792G>A

1 paper

NM_002609.4

p.R597L

c.1790G>T

1 paper

NM_002609.4

p.R597Q

c.1790G>A

1 paper

NM_002609.4

p.R597W

c.1789C>T

9 papers

NM_002609.4

p.P596L

c.1787C>T

1 paper

NM_002609.4

p.W593*

c.1779G>A

1 paper

NM_002609.4

p.W593*

c.1778G>A