Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.R576Splc

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.R576Splc
c.1728-48T>C
Surrounding Variants
1 paper
NM_199242.3
p.G578R
c.1732G>A
1 paper
NM_199242.3
p.L582L
c.1744C>T
1 paper
NM_199242.3
p.R576fs
c.1726_1727fs
1 paper
NM_199242.3
p.E575fs
c.1723_1724fs
4 papers
NM_199242.3
p.E575insFs
c.1723_1724insA
3 papers
NM_199242.3
p.F585_H586insFs
c.1755_1756insT
1 paper
NM_199242.3
p.S574insFs
c.1721_1722insA
1 paper
NM_199242.3
p.H586fs
c.1756_1757fs
1 paper
NM_199242.3
p.L580_H586del0
c.1740_1757del18
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.W588*
c.1763G>A
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