Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.V711_I712del1

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.V711_I712del1
c.2133_2135delATC
Surrounding Variants
2 papers
NM_199242.3
p.I712M
c.2136C>G
2 papers
NM_199242.3
p.I712_G713del1
c.2135_2137delCGA
1 paper
NM_199242.3
p.W721*
c.2162G>A
1 paper
NM_199242.3
p.W721*
c.2163G>A
1 paper
NM_199242.3
p.E725G
c.2174A>G
1 paper
NM_199242.3
p.Q726*
c.2176C>T
1 paper
NM_199242.3
p.R727W
c.2179C>T
5 papers
NM_199242.3
p.R727Q
c.2180G>A
2 papers
NM_199242.3
p.V731M
c.2191G>A
1 paper
NM_199242.3
p.Q734Q
c.2202G>A
1 paper
NM_199242.3
p.Q736*
c.2206C>T
2 papers
NM_199242.3
p.Q738*
c.2212C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."