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

61 papers

NM_006206.6

p.V824V

c.2472C>T

Surrounding Variants

1 paper

NM_006206.6

p.V824A

c.2471T>C

8 papers

NM_006206.6

p.V824I

c.2470G>A

3 papers

NM_006206.6

p.V824L

c.2470G>C

1 paper

NM_006206.6

p.V824fs

c.2470_2471fs

1 paper

NM_006206.6

p.V824insFs

c.2471dupT

1 paper

NM_006206.6

p.N823K

c.2469C>A

1 paper

NM_006206.6

p.N823K

c.2469C>G

1 paper

NM_006206.6

p.N823I

c.2468A>T

1 paper

NM_006206.6

p.N823Y

c.2467A>T

1 paper

NM_006206.6

p.L826P

c.2477T>C

8 papers

NM_006206.6

p.R822H

c.2465G>A

1 paper

NM_006206.6

p.A827T

c.2479G>A