Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.L532_V533Splc

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.L532_V533Splc
c.1597-2A>T
Surrounding Variants
1 paper
NM_199242.3
p.V533fs
c.1597_1598fs
1 paper
NM_199242.3
p.A534T
c.1600G>A
6 papers
NM_199242.3
p.R536L
c.1607G>T
1 paper
NM_199242.3
p.V537L
c.1609G>T
1 paper
NM_199242.3
p.V537L
c.1609G>C
1 paper
NM_199242.3
p.T542M
c.1625C>T
1 paper
NM_199242.3
p.L532_V533Splc
c.1596+36A>G
1 paper
NM_199242.3
p.E554delFs
c.1660delC
19 papers
NM_199242.3
p.L532_V533Splc
c.1596+1G>C
1 paper
NM_199242.3
p.Q558H
c.1674G>T
1 paper
NM_199242.3
p.W531delFs
c.1591delA
1 paper
NM_199242.3
p.L529P
c.1586T>C
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