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

3 papers

NM_002609.4

p.R561_Y562del1

c.1682_1684delAAC

Surrounding Variants

17 papers

NM_002609.4

p.Y562C

c.1685A>G

2 papers

NM_002609.4

p.Y562S

c.1685A>C

6 papers

NM_001355016.2

p.Y498D

c.1492T>G

NM_002609.4

p.Y562D

c.1684T>G

3 papers

NM_002609.4

p.Y562N

c.1684T>A

1 paper

NM_002609.4

p.Y562Y

c.1686C>T

2 papers

NM_002609.4

p.Y562*

c.1686C>G

2 papers

NM_002609.4

p.Y562*

c.1686C>A

1 paper

NM_002609.4

p.K559_Y562del0

c.1677_1685del9

1 paper

NM_002609.4

p.E563Q

c.1687G>C

3 papers

NM_002609.4

p.E563K

c.1687G>A

1 paper

NM_002609.4

p.K559_Y562del4

c.1675_1685del12

1 paper

NM_002609.4

p.R561H

c.1682G>A