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

2 papers

NM_006206.6

p.D842_D846delins

c.2524_2536delinsC

Surrounding Variants

4 papers

NM_006206.6

p.D842N

c.2524G>A

15 papers

NM_006206.6

p.D842H

c.2524G>C

1 paper

NM_006206.6

p.D842fs

c.2524_2525fs

70 papers

NM_006206.6

p.D842Y

c.2524G>T

1 paper

NM_006206.6

p.D842delins

c.2524_2525delinsCT

2 papers

NM_006206.6

p.D842_I843del1

c.2525_2527delACA

1 paper

NM_006206.6

p.D842_H845delins

c.2524_2533delinsT

2 papers

NM_006206.6

p.D842_D846delins

c.2524_2536delinsA

2 papers

NM_006206.6

p.D842_D846delins

c.2524_2537delinsAC

1 paper

NM_006206.6

p.D842_D846delins

c.2524_2538delinsAGT

5 papers

NM_006206.6

p.D842A

c.2525A>C

2 papers

NM_006206.6

p.R841S

c.2523A>C