Varaico: Literature-Extracted Genetic Variants

Gene:VWCE

VWCE

63 papers

Pfam Domains

cEGFaa 161–184UCSCComplement Clr-like EGF-like
cEGFaa 200–223UCSCComplement Clr-like EGF-like
VWCaa 386–440UCSCvon Willebrand factor type C domain
VWCaa 501–559UCSCvon Willebrand factor type C domain
VWC2L_2ndaa 570–624UCSCVWC2L-like domain
VWCaa 629–684UCSCvon Willebrand factor type C domain

Gene Aliases

HGNC Name

von Willebrand factor C and EGF domains

HGNC Alias Symbols

URG11; FLJ32009; VWC1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 70 variants
2 papers
NM_152718.2
p.V44I
c.130G>A
2 papers
NM_152718.2
p.P489fs
c.1465_1466fs
2 papers
NM_152718.2
p.P539A
c.1615C>G
1 paper
NM_152718.2
p.A3A
c.9C>A
1 paper
NM_152718.2
p.G4A
c.11G>C
1 paper
NM_152718.2
p.A10V
c.29C>T
1 paper
NM_152718.2
p.P17fs
c.49_50fs
1 paper
NM_152718.2
p.G18G
c.54G>A
1 paper
NM_152718.2
p.K28*
c.82A>T
1 paper
NM_152718.2
p.R37Splc
c.110+6C>T
1 paper
NM_152718.2
p.C54S
c.160T>A
1 paper
NM_152718.2
p.C54S
c.161G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."