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

29 papers

NM_006206.6

p.V536E

c.1607T>A

Surrounding Variants

1 paper

NM_006206.6

p.L534L

c.1602G>A

1 paper

NM_006206.6

p.V538M

c.1612G>A

1 paper

NM_006206.6

p.I539T

c.1616T>C

1 paper

NM_006206.6

p.I539I

c.1617C>A

1 paper

NM_006206.6

p.S541L

c.1622C>T

1 paper

NM_006206.6

p.L542R

c.1625T>G

1 paper

NM_006206.6

p.A530T

c.1588G>A

1 paper

NM_006206.6

p.A529_I543ins5

c.1587_1628dup42

1 paper

NM_006206.6

p.I543T

c.1628T>C

1 paper

NM_006206.6

p.A529T

c.1585G>A

19 papers

NM_006206.6

p.V544A

c.1631T>C

1 paper

NM_006206.6

p.V544G

c.1631T>G