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.L22I

c.64C>A

Surrounding Variants

1 paper

NM_006206.6

p.C23del1

c.67_68delTGC

1 paper

NM_006206.6

p.C23S

c.67T>A

1 paper

NM_006206.6

p.C23R

c.67T>C

1 paper

NM_006206.6

p.C23G

c.67T>G

1 paper

NM_006206.6

p.C23insFs

c.68_69insG

1 paper

NM_006206.6

p.C23S

c.68G>C

1 paper

NM_006206.6

p.Q24H

c.72G>T

1 paper

NM_006206.6

p.L18_S19insFs

c.54_55insT

1 paper

NM_006206.6

p.L18P

c.53T>C

2 papers

NM_006206.6

p.L27ins0

c.79_81dupTTA

1 paper

NM_006206.6

p.S26L

c.77C>T

1 paper

NM_006206.6

p.G17G

c.51G>A