Varaico: Literature-Extracted Genetic Variants

PDGFRA

2,475 papers

RefSeq Summary

This gene encodes 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. The identity of t...

Pfam Domains

VEGFR1-3_N_Ig-likeaa 26–131UCSCVEGFR1-3, N-terminal Ig-like domain

I-setaa 216–307UCSCImmunoglobulin I-set domain

I-setaa 319–410UCSCImmunoglobulin I-set domain

Ig_PDGFR_d4aa 415–549UCSCPlatelet-derived growth factor receptor Ig-like domain 4

PK_Tyr_Ser-Thraa 593–950UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

platelet derived growth factor receptor alpha

HGNC Alias Symbols

CD140a; PDGFR2; GAS9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

9 papers

NM_006206.6

p.G12R

c.34G>C

Surrounding Variants

15 papers

NM_006206.6

p.G12S

c.34G>A

18 papers

NM_006206.6

p.G12C

c.34G>T

34 papers

NM_006206.6

p.G12D

c.35G>A

14 papers

NM_006206.6

p.G12A

c.35G>C

1 paper

NM_006206.6

p.G12_C13insFs

c.36_37insC

21 papers

NM_006206.6

p.G12V

c.35G>T

1 paper

NM_006206.6

p.G12G

c.36C>A

1 paper

NM_006206.6

p.C13delFs

c.38_39delGT

1 paper

NM_006206.6

p.L11V

c.31T>G

1 paper

NM_006206.6

p.C13fs

c.37_38fs

1 paper

NM_006206.6

p.V10V

c.30C>A

4 papers

NM_006206.6

p.C13Y

c.38G>A