Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.L378V

UNC13C

173 papers

Pfam Domains

C1_1aa 1098–1150UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)
C2aa 1220–1329UCSCC2 domain
MUNaa 1540–2028UCSCMUN domain
C2aa 2061–2171UCSCC2 domain

Gene Aliases

HGNC Name

unc-13 homolog C

HGNC Alias Symbols

Munc13-3; DKFZp547H074

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001080534.3
p.L378V
c.1132C>G
Surrounding Variants
1 paper
NM_001080534.3
p.I377M
c.1131A>G
1 paper
NM_001080534.3
p.L378L
c.1134T>C
1 paper
NM_001080534.3
p.I377V
c.1129A>G
1 paper
NM_001080534.3
p.P376P
c.1128C>A
1 paper
NM_001080534.3
p.P376H
c.1127C>A
1 paper
NM_001080534.3
p.V379V
c.1137G>A
1 paper
NM_001080534.3
p.P376S
c.1126C>T
1 paper
NM_001080534.3
p.R375R
c.1125A>T
1 paper
NM_001080534.3
p.Y380Y
c.1140C>T
1 paper
NM_001080534.3
p.R375Q
c.1124G>A
1 paper
NM_001080534.3
p.R375*
c.1123C>T
1 paper
NM_001080534.3
p.F381L
c.1141T>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."