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

1–12 of 2047 variants

666 papers

NM_006206.6

p.D842V

c.2525A>T

136 papers

NM_006206.6

p.V561D

c.1682T>A

105 papers

NM_006206.6

p.T674I

c.2021C>T

73 papers

NM_006206.6

p.N659K

c.1977C>A

73 papers

NM_006206.6

p.N659K

c.1977C>G

70 papers

NM_006206.6

p.D842Y

c.2524G>T

61 papers

NM_006206.6

p.V824V

c.2472C>T

61 papers

NM_006206.6

p.D846Y

c.2536G>T

52 papers

NM_006206.6

p.P567P

c.1701A>G

46 papers

NM_006206.6

p.S478P

c.1432T>C

34 papers

NM_006206.6

p.G12D

c.35G>A

29 papers

NM_006206.6

p.V536E

c.1607T>A