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

7 papers

NM_002609.4

p.R2W

c.4C>T

Surrounding Variants

1 paper

NM_002609.4

p.R2R

c.4C>A

1 paper

NM_002609.4

p.M1I

c.3G>T

1 paper

NM_002609.4

p.M1_R2insFs

c.3_4insA

1 paper

NM_002609.4

p.M1I

c.3G>C

5 papers

NM_002609.4

p.M1I

c.3G>A

3 papers

NM_002609.4

p.R2Q

c.5G>A

1 paper

NM_002609.4

p.M1R

c.2T>G

1 paper

NM_002609.4

p.M1Fs

c.2delinsCTGFs

2 papers

NM_002609.4

p.M1V

c.1A>G

1 paper

NM_002609.4

p.P4L

c.11C>T

1 paper

NM_002609.4

p.P4R

c.11C>G

1 paper

NM_002609.4

p.P4Q

c.11C>A