Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.S254S

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.S254S
c.762T>C
Surrounding Variants
1 paper
NM_001080534.3
p.Q255E
c.763C>G
1 paper
NM_001080534.3
p.Q255*
c.763C>T
1 paper
NM_001080534.3
p.S254N
c.761G>A
1 paper
NM_001080534.3
p.S254T
c.761G>C
1 paper
NM_001080534.3
p.S254_Q255del2
c.760_764del6
1 paper
NM_001080534.3
p.I256V
c.766A>G
1 paper
NM_001080534.3
p.I253V
c.757A>G
1 paper
NM_001080534.3
p.I256N
c.767T>A
1 paper
NM_001080534.3
p.E257*
c.769G>T
1 paper
NM_001080534.3
p.Q251Q
c.753G>A
1 paper
NM_001080534.3
p.Q251P
c.752A>C
1 paper
NM_001080534.3
p.Q251R
c.752A>G
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