Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.R782fs

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
8 papers
NM_199242.3
p.R782fs
c.2344_2345fs
Surrounding Variants
9 papers
NM_199242.3
p.R782fs
c.2344_2345fs
10 papers
NM_199242.3
p.V781I
c.2341G>A
27 papers
NM_199242.3
p.R782_E783delFs
c.2346_2349del4
7 papers
NM_199242.3
p.V779M
c.2335G>A
3 papers
NM_199242.3
p.D789_A790Splc
c.2367+1G>A
2 papers
NM_199242.3
p.Q766_L767Splc
c.2299-46C>T
3 papers
NM_199242.3
p.E765_Q766delFs
c.2295_2298del4
1 paper
NM_199242.3
p.G753_Q766delFs
c.2258_2298del41
2 papers
NM_199242.3
p.Q766_L767Splc
c.2298+1G>A
6 papers
NM_199242.3
p.Q766*
c.2296C>T
1 paper
NM_199242.3
p.E765D
c.2295G>T
1 paper
NM_199242.3
p.E765D
c.2295G>C
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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."