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.R558L

c.1673G>T

Surrounding Variants

8 papers

NM_006206.6

p.R558H

c.1673G>A

1 paper

NM_006206.6

p.R558P

c.1673G>C

1 paper

NM_006206.6

p.R558ins1

c.1673_1674insTCC

1 paper

NM_006206.6

p.W559_V561del0

c.1675_1683del9

1 paper

NM_006206.6

p.R558_S564del0

c.1674_1691del18

1 paper

NM_006206.6

p.W559_I565del0

c.1675_1695del21

1 paper

NM_006206.6

p.W559insFs

c.1675dupT

15 papers

NM_006206.6

p.R558C

c.1672C>T

1 paper

NM_006206.6

p.R558_Y572del0

c.1673_1714del42

1 paper

NM_006206.6

p.W559del1

c.1675_1677delTGG

2 papers

NM_006206.6

p.W559_R560del0

c.1675_1680del6

2 papers

NM_006206.6

p.W559_I573del15

c.1675_1718del45