Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.S71S

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.S71S
c.213C>T
Surrounding Variants
1 paper
NM_001080534.3
p.S71S
c.213C>A
1 paper
NM_001080534.3
p.T72S
c.214A>T
1 paper
NM_001080534.3
p.S71F
c.212C>T
1 paper
NM_001080534.3
p.T72N
c.215C>A
1 paper
NM_001080534.3
p.T72S
c.215C>G
1 paper
NM_001080534.3
p.T72I
c.215C>T
1 paper
NM_001080534.3
p.S70S
c.210A>G
1 paper
NM_001080534.3
p.T72T
c.216T>C
1 paper
NM_001080534.3
p.S70L
c.209C>T
1 paper
NM_001080534.3
p.H73L
c.218A>T
1 paper
NM_001080534.3
p.S70P
c.208T>C
1 paper
NM_001080534.3
p.H73Q
c.219C>A
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