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.V561F

c.1681G>T

Surrounding Variants

1 paper

NM_006206.6

p.V561_I562insER

c.1681_1685ins6

1 paper

NM_006206.6

p.V561_H570delins

c.1681_1710delinsACT

3 papers

NM_006206.6

p.R560S

c.1680G>C

3 papers

NM_006206.6

p.R560S

c.1680G>T

1 paper

NM_006206.6

p.R560_G569delins

c.1680_1707delinsC

136 papers

NM_006206.6

p.V561D

c.1682T>A

4 papers

NM_006206.6

p.V561A

c.1682T>C

2 papers

NM_006206.6

p.V561G

c.1682T>G

4 papers

NM_006206.6

p.R560delins

c.1679_1680delinsAG

1 paper

NM_006206.6

p.R560_V561insER

c.1678_1682ins6

2 papers

NM_006206.6

p.R560G

c.1678A>G

1 paper

NM_006206.6

p.I562F

c.1684A>T