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

3 papers

NM_006206.6

p.V832V

c.2496G>A

Surrounding Variants

1 paper

NM_006206.6

p.K833Q

c.2497A>C

1 paper

NM_006206.6

p.K833E

c.2497A>G

1 paper

NM_006206.6

p.K833*

c.2497A>T

2 papers

NM_006206.6

p.V832M

c.2494G>A

1 paper

NM_006206.6

p.V832L

c.2494G>C

1 paper

NM_006206.6

p.V832L

c.2494G>T

1 paper

NM_006206.6

p.I834_D842del9

c.2500_2525del27

2 papers

NM_006206.6

p.I834V

c.2500A>G

1 paper

NM_006206.6

p.I834delFs

c.2501delT

1 paper

NM_006206.6

p.I831T

c.2492T>C

2 papers

NM_006206.6

p.I831V

c.2491A>G

1 paper

NM_006206.6

p.I831F

c.2491A>T