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.D575N

c.1723G>A

Surrounding Variants

2 papers

NM_002609.4

p.S574F

c.1721C>T

1 paper

NM_002609.4

p.V572_S573insFs

c.1716_1717ins16

4 papers

NM_002609.4

p.G576S

c.1726G>A

1 paper

NM_002609.4

p.I564_S573del0

c.1691_1717del27

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.E578Q

c.1732G>C

1 paper

NM_002609.4

p.W566_S571del0

c.1698_1712del15

1 paper

NM_002609.4

p.E578V

c.1733A>T

2 papers

NM_002609.4

p.S571F

c.1712C>T

1 paper

NM_002609.4

p.W566_S571del0

c.1697_1711del15

1 paper

NM_002609.4

p.Y579H

c.1735T>C