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.R690S

c.2070G>C

Surrounding Variants

1 paper

NM_006206.6

p.R690S

c.2070G>T

2 papers

NM_006206.6

p.R690K

c.2069G>A

1 paper

NM_006206.6

p.D691N

c.2071G>A

3 papers

NM_006206.6

p.D691Y

c.2071G>T

1 paper

NM_006206.6

p.D691G

c.2072A>G

1 paper

NM_006206.6

p.D691E

c.2073T>A

1 paper

NM_006206.6

p.D691E

c.2073T>G

1 paper

NM_006206.6

p.N689D

c.2065A>G

1 paper

NM_006206.6

p.S692T

c.2075G>C

1 paper

NM_006206.6

p.S692I

c.2075G>T

2 papers

NM_006206.6

p.K688N

c.2064G>C

2 papers

NM_006206.6

p.K688N

c.2064G>T