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

2 papers

NM_002609.4

p.F119S

c.356T>C

Surrounding Variants

1 paper

NM_002609.4

p.P121S

c.361C>T

1 paper

NM_002609.4

p.Y117F

c.350A>T

1 paper

NM_002609.4

p.Y117C

c.350A>G

1 paper

NM_002609.4

p.D122Y

c.364G>T

2 papers

NM_002609.4

p.L116H

c.347T>A

1 paper

NM_002609.4

p.R115L

c.344G>T

1 paper

NM_002609.4

p.R115Q

c.344G>A

1 paper

NM_002609.4

p.R115delFs

c.343delG

3 papers

NM_002609.4

p.R115W

c.343C>T

1 paper

NM_002609.4

p.R115R

c.343C>A

1 paper

NM_002609.4

p.K114_R115insFs

c.342_343insG

1 paper

NM_002609.4

p.E112K

c.334G>A