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

1 paper

NM_006206.6

p.G96E

c.287G>A

Surrounding Variants

1 paper

NM_006206.6

p.G96A

c.287G>C

1 paper

NM_006206.6

p.T95I

c.284C>T

1 paper

NM_006206.6

p.L97*

c.290T>A

1 paper

NM_006206.6

p.H94Q

c.282C>A

1 paper

NM_006206.6

p.H94Q

c.282C>G

1 paper

NM_006206.6

p.Y98*

c.294C>A

1 paper

NM_006206.6

p.Y98*

c.294C>G

1 paper

NM_006206.6

p.H94Y

c.280C>T

1 paper

NM_006206.6

p.A93D

c.278C>A

2 papers

NM_006206.6

p.A93T

c.277G>A

1 paper

NM_006206.6

p.A93S

c.277G>T

2 papers

NM_006206.6

p.A92A

c.276G>A