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.H654Q

c.1962T>G

Surrounding Variants

2 papers

NM_006206.6

p.H654Q

c.1962T>A

1 paper

NM_006206.6

p.H654N

c.1960C>A

1 paper

NM_006206.6

p.L655W

c.1964T>G

5 papers

NM_006206.6

p.L655F

c.1965G>C

5 papers

NM_006206.6

p.L655F

c.1965G>T

1 paper

NM_006206.6

p.N656D

c.1966A>G

1 paper

NM_006206.6

p.N656Y

c.1966A>T

1 paper

NM_006206.6

p.P653Q

c.1958C>A

9 papers

NM_006206.6

p.P653L

c.1958C>T

1 paper

NM_006206.6

p.N656S

c.1967A>G

1 paper

NM_006206.6

p.P653S

c.1957C>T

7 papers

NM_006206.6

p.G652E

c.1955G>A