Varaico: Literature-Extracted Genetic Variants

Gene:VWA7

VWA7

46 papers

Pfam Domains

VWA7_Naa 82–305UCSCVWA7 N-terminal domain
VWA_4aa 315–484UCSCvon Willebrand factor A domain
GBD_Hemicentinaa 503–600UCSCHemicentin galactose-binding domain-like
VWA7_4aa 602–720UCSCVWA7 beta-sandwich domain
Ig_VWA7aa 725–829UCSCVWA7 Ig-like domain

Gene Aliases

HGNC Name

von Willebrand factor A domain containing 7

HGNC Previous Symbol

C6orf27

Papers
RefSeq ID
Protein change
DNA change
1–12 of 50 variants
4 papers
NM_025258.3
p.T861A
c.2581A>G
3 papers
NM_025258.3
p.H353fs
c.1057_1058fs
3 papers
NM_025258.3
p.G704V
c.2111G>T
2 papers
NM_025258.3
p.R98W
c.292C>T
2 papers
NM_025258.3
p.G387A
c.1160G>C
2 papers
NM_025258.3
p.R711C
c.2131C>T
2 papers
NM_025258.3
p.G877R
c.2629G>C
1 paper
NM_025258.3
p.S9F
c.26C>T
1 paper
NM_025258.3
p.H10Y
c.28C>T
1 paper
NM_025258.3
p.R73S
c.217C>A
1 paper
NM_025258.3
p.F100F
c.300C>T
1 paper
NM_025258.3
p.R109fs
c.325_326fs
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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."