Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.L580_H586del0

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.L580_H586del0
c.1740_1757del18
Surrounding Variants
4 papers
NM_199242.3
p.R587C
c.1759C>T
3 papers
NM_199242.3
p.R587H
c.1760G>A
1 paper
NM_199242.3
p.H586fs
c.1756_1757fs
3 papers
NM_199242.3
p.F585_H586insFs
c.1755_1756insT
1 paper
NM_199242.3
p.W588*
c.1763G>A
2 papers
NM_199242.3
p.P591L
c.1772C>T
1 paper
NM_199242.3
p.L582L
c.1744C>T
1 paper
NM_199242.3
p.G578R
c.1732G>A
2 papers
NM_199242.3
p.W596L
c.1787G>T
1 paper
NM_199242.3
p.T600M
c.1799C>T
1 paper
NM_199242.3
p.Y601*
c.1803C>G
1 paper
NM_199242.3
p.Y601*
c.1803C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."