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.L502_A503insYA

c.1504_1508ins6

Surrounding Variants

2 papers

NM_006206.6

p.L502_A503ins0

c.1504_1509dup6

1 paper

NM_006206.6

p.C501Y

c.1502G>A

1 paper

NM_006206.6

p.C501ins2

c.1502_1503ins6

1 paper

NM_006206.6

p.C501ins2

c.1502_1503ins6

2 papers

NM_006206.6

p.A503T

c.1507G>A

2 papers

NM_006206.6

p.R500Q

c.1499G>A

2 papers

NM_006206.6

p.R500*

c.1498C>T

1 paper

NM_006206.6

p.N505delFs

c.1513delA

5 papers

NM_006206.6

p.V499M

c.1495G>A

2 papers

NM_006206.6

p.N505I

c.1514A>T

1 paper

NM_006206.6

p.A498V

c.1493C>T

1 paper

NM_006206.6

p.L506_G508ins1

c.1516_1524dup9