Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.L749_A750del1

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.L749_A750del1
c.2247_2249delGCC
Surrounding Variants
2 papers
NM_199242.3
p.A748V
c.2243C>T
1 paper
NM_199242.3
p.G753fs
c.2257_2258fs
1 paper
NM_199242.3
p.G753V
c.2258G>T
1 paper
NM_199242.3
p.A748S
c.2242G>T
1 paper
NM_199242.3
p.G753insFs
c.2258_2259insA
2 papers
NM_199242.3
p.G753fs
c.2257_2258fs
1 paper
NM_199242.3
p.H754fs
c.2260_2261fs
4 papers
NM_199242.3
p.S747N
c.2240G>A
3 papers
NM_199242.3
p.N739_S747del0
c.2216_2239del24
2 papers
NM_199242.3
p.H754Q
c.2262T>G
2 papers
NM_199242.3
p.H754Q
c.2262T>A
1 paper
NM_199242.3
p.E755fs
c.2263_2264fs
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