Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.I343V

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.I343V
c.1027A>G
Surrounding Variants
1 paper
NM_001080534.3
p.I343L
c.1027A>C
1 paper
NM_001080534.3
p.I343L
c.1027A>T
1 paper
NM_001080534.3
p.I343T
c.1028T>C
1 paper
NM_001080534.3
p.D344Y
c.1030G>T
1 paper
NM_001080534.3
p.D344A
c.1031A>C
1 paper
NM_001080534.3
p.D344E
c.1032T>A
1 paper
NM_001080534.3
p.D344D
c.1032T>C
1 paper
NM_001080534.3
p.D344E
c.1032T>G
1 paper
NM_001080534.3
p.K345E
c.1033A>G
1 paper
NM_001080534.3
p.Q340R
c.1019A>G
1 paper
NM_001080534.3
p.M346V
c.1036A>G
1 paper
NM_001080534.3
p.Q340*
c.1018C>T
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