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.V60L

c.178G>T

Surrounding Variants

1 paper

NM_002609.4

p.V60L

c.178G>C

1 paper

NM_002609.4

p.V60E

c.179T>A

3 papers

NM_002609.4

p.P59L

c.176C>T

1 paper

NM_002609.4

p.S57S

c.171A>T

1 paper

NM_002609.4

p.R64W

c.190C>T

1 paper

NM_002609.4

p.R64insFs

c.190_191insA

1 paper

NM_002609.4

p.S55*

c.164C>A

1 paper

NM_001355016.2

p.M1R

c.2T>G

1 paper

NM_002609.4

p.S66C

c.197C>G

1 paper

NM_002609.4

p.L52Q

c.155T>A

1 paper

NM_002609.4

p.E68K

c.202G>A

1 paper

NM_002609.4

p.V51V

c.153T>G