Varaico: Literature-Extracted Genetic Variants

Gene:PDGFC
Variant:p.K105Splc

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.K105Splc
c.314+2T>C
Surrounding Variants
1 paper
NM_016205.3
p.C104*
c.312C>A
1 paper
NM_016205.3
p.D98N
c.292G>A
1 paper
NM_016205.3
p.L96Fs
c.288delinsGTFs
1 paper
NM_016205.3
p.N55S
c.164A>G
1 paper
NM_016205.3
p.T54A
c.160A>G
1 paper
NM_016205.3
p.H46Y
c.136C>T
1 paper
NM_016205.3
p.D43H
c.127G>C
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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."