Varaico: Literature-Extracted Genetic Variants

Gene:VWCE
Variant:p.C97S

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
Selected Variant
1 paper
NM_152718.2
p.C97S
c.289T>A
Surrounding Variants
1 paper
NM_152718.2
p.C97S
c.290G>C
1 paper
NM_152718.2
p.A82T
c.244G>A
1 paper
NM_152718.2
p.S72F
c.215C>T
1 paper
NM_152718.2
p.C54S
c.161G>C
1 paper
NM_152718.2
p.C54S
c.160T>A
2 papers
NM_152718.2
p.V44I
c.130G>A
1 paper
NM_152718.2
p.V127M
c.379G>A
1 paper
NM_152718.2
p.R37Splc
c.110+6C>T
1 paper
NM_152718.2
p.K28*
c.82A>T
1 paper
NM_152718.2
p.G18G
c.54G>A
1 paper
NM_152718.2
p.P17fs
c.49_50fs
1 paper
NM_152718.2
p.A10V
c.29C>T
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