Varaico: Literature-Extracted Genetic Variants

Gene:PDGFC
Variant:p.R207K

PDGFC

80 papers

RefSeq Summary

The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized b...

Pfam Domains

CUBaa 47–160UCSCCUB domain
PDGFaa 250–337UCSCPDGF/VEGF domain

Gene Aliases

HGNC Name

platelet derived growth factor C

HGNC Alias Symbols

SCDGF; fallotein

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016205.3
p.R207K
c.620G>A
Surrounding Variants
1 paper
NM_016205.3
p.W208L
c.623G>T
1 paper
NM_016205.3
p.Y202H
c.604T>C
1 paper
NM_016205.3
p.W220*
c.660G>A
1 paper
NM_016205.3
p.K225E
c.673A>G
1 paper
NM_016205.3
p.N188S
c.563A>G
1 paper
NM_016205.3
p.V228fs
c.682_683fs
1 paper
NM_016205.3
p.L183fs
c.547_548fs
1 paper
NM_016205.3
p.P182insFs
c.546dupA
1 paper
NM_016205.3
p.R253H
c.758G>A
1 paper
NM_016205.3
p.S256S
c.768A>G
1 paper
NM_016205.3
p.G273C
c.817G>T
2 papers
NM_016205.3
p.C274S
c.820T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."