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

73 papers

NM_006206.6

p.N659K

c.1977C>G

Surrounding Variants

73 papers

NM_006206.6

p.N659K

c.1977C>A

7 papers

NM_006206.6

p.N659S

c.1976A>G

1 paper

NM_006206.6

p.N659I

c.1976A>T

1 paper

NM_006206.6

p.L660V

c.1978T>G

4 papers

NM_006206.6

p.N659H

c.1975A>C

5 papers

NM_006206.6

p.N659D

c.1975A>G

24 papers

NM_006206.6

p.N659Y

c.1975A>T

2 papers

NM_006206.6

p.L660F

c.1980G>C

2 papers

NM_006206.6

p.L660F

c.1980G>T

11 papers

NM_006206.6

p.V658A

c.1973T>C

1 paper

NM_006206.6

p.V658G

c.1973T>G

2 papers

NM_006206.6

p.V658I

c.1972G>A