Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.Q251_D252Splc

UNC13D

444 papers

RefSeq Summary

This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other...

Pfam Domains

C2aa 112–223UCSCC2 domain
MUNaa 554–893UCSCMUN domain
C2aa 925–1039UCSCC2 domain

Gene Aliases

HGNC Name

unc-13 homolog D

HGNC Alias Symbol

Munc13-4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_199242.3
p.Q251_D252Splc
c.753+3G>A
Surrounding Variants
16 papers
NM_199242.3
p.Q251_D252Splc
c.753+1G>T
1 paper
NM_199242.3
p.Q251*
c.751C>T
2 papers
NM_199242.3
p.L248P
c.743T>C
1 paper
NM_199242.3
p.V247G
c.740T>G
1 paper
NM_199242.3
p.G244E
c.731G>A
1 paper
NM_199242.3
p.G244W
c.730G>T
1 paper
NM_199242.3
p.L243P
c.728T>C
1 paper
NM_199242.3
p.D241N
c.721G>A
1 paper
NM_199242.3
p.D240N
c.718G>A
2 papers
NM_199242.3
p.D236delFs
c.706delC
2 papers
NM_199242.3
p.D236fs
c.706_707fs
1 paper
NM_199242.3
p.R234delFs
c.701delC
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