Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.S125R

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.S125R
c.373A>C
Surrounding Variants
1 paper
NM_001080534.3
p.S125N
c.374G>A
1 paper
NM_001080534.3
p.E124A
c.371A>C
1 paper
NM_001080534.3
p.S125R
c.375T>A
1 paper
NM_001080534.3
p.S125R
c.375T>G
1 paper
NM_001080534.3
p.E124K
c.370G>A
1 paper
NM_001080534.3
p.E124Q
c.370G>C
1 paper
NM_001080534.3
p.I123I
c.369C>A
1 paper
NM_001080534.3
p.I123M
c.369C>G
1 paper
NM_001080534.3
p.I123I
c.369C>T
1 paper
NM_001080534.3
p.I123V
c.367A>G
1 paper
NM_001080534.3
p.I123F
c.367A>T
1 paper
NM_001080534.3
p.Y127H
c.379T>C
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