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.Y582S

c.1745A>C

Surrounding Variants

2 papers

NM_006206.6

p.D583_W586del0

c.1747_1758del12

1 paper

NM_006206.6

p.D583N

c.1747G>A

1 paper

NM_006206.6

p.D583_W586del0

c.1748_1756del9

2 papers

NM_006206.6

p.P581P

c.1743T>C

2 papers

NM_006206.6

p.D583G

c.1748A>G

1 paper

NM_006206.6

p.D583V

c.1748A>T

1 paper

NM_006206.6

p.P581L

c.1742C>T

8 papers

NM_006206.6

p.P581S

c.1741C>T

1 paper

NM_006206.6

p.S584del1

c.1750_1751delTCA

1 paper

NM_006206.6

p.P581_L593ins4

c.1741_1779dup39

1 paper

NM_006206.6

p.S584P

c.1750T>C

1 paper

NM_006206.6

p.S584*

c.1751C>A