Varaico: Literature-Extracted Genetic Variants

Gene:UNC13C
Variant:p.P439P

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.P439P
c.1317A>G
Surrounding Variants
1 paper
NM_001080534.3
p.K440_I441del2
c.1318_1322del6
1 paper
NM_001080534.3
p.K440Q
c.1318A>C
1 paper
NM_001080534.3
p.P439L
c.1316C>T
1 paper
NM_001080534.3
p.K440K
c.1320A>G
1 paper
NM_001080534.3
p.E438E
c.1314G>A
1 paper
NM_001080534.3
p.E438G
c.1313A>G
1 paper
NM_001080534.3
p.I441I
c.1323C>T
2 papers
NM_001080534.3
p.K442del1
c.1324_1326delAAG
1 paper
NM_001080534.3
p.K442R
c.1325A>G
1 paper
NM_001080534.3
p.K442M
c.1325A>T
1 paper
NM_001080534.3
p.K442K
c.1326G>A
1 paper
NM_001080534.3
p.T436T
c.1308T>A
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