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.T520N

c.1559C>A

Surrounding Variants

2 papers

NM_006206.6

p.T520A

c.1558A>G

1 paper

NM_006206.6

p.A518fs

c.1552_1553fs

1 paper

NM_006206.6

p.V517G

c.1550T>G

1 paper

NM_006206.6

p.L516L

c.1548G>C

1 paper

NM_006206.6

p.K515fs

c.1543_1544fs

1 paper

NM_006206.6

p.L514insFs

c.1541_1542insC

1 paper

NM_006206.6

p.L514M

c.1540C>A

2 papers

NM_006206.6

p.R512Q

c.1535G>A

2 papers

NM_006206.6

p.R512*

c.1534C>T

3 papers

NM_006206.6

p.A509D

c.1526C>A

1 paper

NM_006206.6

p.G508_A509ins4

c.1524_1525ins12

1 paper

NM_006206.6

p.G508E

c.1523G>A