Varaico: Literature-Extracted Genetic Variants

Gene:VWCE
Variant:p.L798I

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.L798I
c.2392C>A
Surrounding Variants
1 paper
NM_152718.2
p.L799V
c.2395C>G
1 paper
NM_152718.2
p.T810A
c.2428A>G
1 paper
NM_152718.2
p.P817L
c.2450C>T
1 paper
NM_152718.2
p.A820G
c.2459C>G
1 paper
NM_152718.2
p.V761E
c.2282T>A
1 paper
NM_152718.2
p.P842R
c.2525C>G
1 paper
NM_152718.2
p.D744Splc
c.2231-6C>G
1 paper
NM_152718.2
p.L859V
c.2575C>G
1 paper
NM_152718.2
p.Q866*
c.2596C>T
1 paper
NM_152718.2
p.S885F
c.2654C>T
1 paper
NM_152718.2
p.W887S
c.2660G>C
1 paper
NM_152718.2
p.P908S
c.2722C>T
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