Varaico: Literature-Extracted Genetic Variants

Gene:VWCE
Variant:p.P539A

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
2 papers
NM_152718.2
p.P539A
c.1615C>G
Surrounding Variants
1 paper
NM_152718.2
p.F535I
c.1603T>A
1 paper
NM_152718.2
p.R545*
c.1633C>T
1 paper
NM_152718.2
p.F557L
c.1669T>C
1 paper
NM_152718.2
p.F557L
c.1671C>G
1 paper
NM_152718.2
p.F557L
c.1671C>A
1 paper
NM_152718.2
p.S565*
c.1694C>A
1 paper
NM_152718.2
p.E520K
c.1558G>A
1 paper
NM_152718.2
p.E576K
c.1726G>A
1 paper
NM_152718.2
p.P578L
c.1733C>T
2 papers
NM_152718.2
p.P489fs
c.1465_1466fs
1 paper
NM_152718.2
p.P489delFs
c.1466delG
1 paper
NM_152718.2
p.P614L
c.1841C>T
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