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.L22P

c.65T>C

Surrounding Variants

1 paper

NM_002609.4

p.L18F

c.54G>T

1 paper

NM_002609.4

p.E26insFs

c.76_77insTG

1 paper

NM_002609.4

p.L18F

c.54G>C

1 paper

NM_002609.4

p.E26G

c.77A>G

1 paper

NM_002609.4

p.L17insFs

c.50_51insT

1 paper

NM_002609.4

p.L17L

c.51G>C

1 paper

NM_002609.4

p.L17insFs

c.50_51insA

1 paper

NM_002609.4

p.L17R

c.50T>G

1 paper

NM_002609.4

p.L16R

c.47T>G

2 papers

NM_002609.4

p.I29F

c.85A>T

4 papers

NM_002609.4

p.E15K

c.43G>A

1 paper

NM_002609.4

p.G32D

c.95G>A