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

4 papers

NM_006206.6

p.D846A

c.2537A>C

Surrounding Variants

1 paper

NM_006206.6

p.D846G

c.2537A>G

12 papers

NM_006206.6

p.D846V

c.2537A>T

3 papers

NM_006206.6

p.D846N

c.2536G>A

1 paper

NM_006206.6

p.D846H

c.2536G>C

61 papers

NM_006206.6

p.D846Y

c.2536G>T

5 papers

NM_006206.6

p.D846E

c.2538T>A

5 papers

NM_006206.6

p.D846E

c.2538T>G

2 papers

NM_006206.6

p.S847del1

c.2539_2540delTCG

5 papers

NM_006206.6

p.S847T

c.2539T>A

1 paper

NM_006206.6

p.S847fs

c.2539_2540fs

1 paper

NM_006206.6

p.S847delFs

c.2540_2541delCG

2 papers

NM_006206.6

p.H845P

c.2534A>C