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

1 paper

NM_006206.6

p.L686F

c.2058G>T

Surrounding Variants

1 paper

NM_006206.6

p.L686F

c.2058G>C

2 papers

NM_006206.6

p.H687N

c.2059C>A

1 paper

NM_006206.6

p.H687D

c.2059C>G

2 papers

NM_006206.6

p.H687Y

c.2059C>T

1 paper

NM_006206.6

p.L686W

c.2057T>G

4 papers

NM_006206.6

p.H687R

c.2060A>G

1 paper

NM_006206.6

p.H687L

c.2060A>T

1 paper

NM_006206.6

p.H687Q

c.2061T>A

1 paper

NM_006206.6

p.H687Q

c.2061T>G

1 paper

NM_006206.6

p.K688Q

c.2062A>C

1 paper

NM_006206.6

p.K688R

c.2063A>G

1 paper

NM_006206.6

p.K688M

c.2063A>T