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

2 papers

NM_006206.6

p.T665A

c.1993A>G

Surrounding Variants

2 papers

NM_006206.6

p.T665I

c.1994C>T

1 paper

NM_006206.6

p.C664Y

c.1991G>A

1 paper

NM_006206.6

p.C664F

c.1991G>T

1 paper

NM_006206.6

p.K666Q

c.1996A>C

3 papers

NM_006206.6

p.A663V

c.1988C>T

3 papers

NM_006206.6

p.S667P

c.1999T>C

1 paper

NM_006206.6

p.S667L

c.2000C>T

2 papers

NM_006206.6

p.S667S

c.2001A>G

4 papers

NM_006206.6

p.G662R

c.1984G>A

3 papers

NM_006206.6

p.G668S

c.2002G>A

3 papers

NM_006206.6

p.G662R

c.1984G>C

1 paper

NM_006206.6

p.L661L

c.1983G>A