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.G96delFs

c.287delC

Surrounding Variants

1 paper

NM_002609.4

p.Y98H

c.292T>C

1 paper

NM_002609.4

p.C100C

c.300C>T

1 paper

NM_002609.4

p.C100*

c.300C>A

1 paper

NM_002609.4

p.T101I

c.302C>T

1 paper

NM_002609.4

p.T91P

c.271A>C

1 paper

NM_002609.4

p.L90H

c.269T>A

1 paper

NM_002609.4

p.N89T

c.266A>C

5 papers

NM_002609.4

p.T88I

c.263C>T

1 paper

NM_002609.4

p.L87P

c.260T>C

1 paper

NM_002609.4

p.R106C

c.316C>T

2 papers

NM_002609.4

p.R106P

c.317G>C

3 papers

NM_002609.4

p.R106H

c.317G>A