Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.E765_Q766delFs

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
3 papers
NM_199242.3
p.E765_Q766delFs
c.2295_2298del4
Surrounding Variants
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
3 papers
NM_199242.3
p.E765fs
c.2293_2294fs
1 paper
NM_199242.3
p.I756delFs
c.2267delA
1 paper
NM_199242.3
p.G753_I756Fs
c.2258_2267delinsTACCTTGTTCGAFs
1 paper
NM_199242.3
p.I756fs
c.2266_2267fs
2 papers
NM_199242.3
p.I756_R757insAC
c.2266_2270ins6
1 paper
NM_199242.3
p.E755insFs
c.2264_2265insCC
1 paper
NM_199242.3
p.E755fs
c.2263_2264fs
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