Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.K54R

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.K54R
c.161A>G
Surrounding Variants
1 paper
NM_001080534.3
p.K54T
c.161A>C
1 paper
NM_001080534.3
p.K54I
c.161A>T
1 paper
NM_001080534.3
p.K54E
c.160A>G
1 paper
NM_001080534.3
p.K54*
c.160A>T
1 paper
NM_001080534.3
p.P53P
c.159C>G
1 paper
NM_001080534.3
p.P53S
c.157C>T
1 paper
NM_001080534.3
p.S52S
c.156C>A
1 paper
NM_001080534.3
p.S52Y
c.155C>A
1 paper
NM_001080534.3
p.S52F
c.155C>T
1 paper
NM_001080534.3
p.S56F
c.167C>T
1 paper
NM_001080534.3
p.S52P
c.154T>C
1 paper
NM_001080534.3
p.S52A
c.154T>G
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