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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDGFC

Variant:p.S11Y

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr4:156970872 G>T

NM_016205.3

p.S11Y

c.32C>A

exact variant not in gnomAD63 overlapping SVs

Surrounding Variants

1 paper

chr4:156970902 A>T

NM_016205.3

p.M1K

c.2T>A

exact variant not in gnomAD63 overlapping SVs

1 paper

chr4:156970831 T>G

NM_016205.3

p.N25H

c.73A>C

exact variant not in gnomAD63 overlapping SVs

4 papers

chr4:156970811 C>A

NM_016205.3

p.Q31H

c.93G>T

Exome: 0.4% (AC=5914, hom=15)Genome: 0.3% (AC=470, hom=1)63 overlapping SVs

4 papers

chr4:156970811 C>G

NM_016205.3

p.Q31H

c.93G>C

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=2, hom=0)63 overlapping SVs

1 paper

chr4:156970792 GTTCC>G

NM_016205.3

p.K36_E37delFs

c.108_111del4

exact variant not in gnomAD63 overlapping SVs

4 papers

chr4:156970791 T>C

NM_016205.3

p.Q38R

c.113A>G

Exome: 0.6% (AC=7977, hom=40)Genome: 0.5% (AC=691, hom=0)63 overlapping SVs

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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."