Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.Q903_A904Splc

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.Q903_A904Splc
c.2709+2T>A
Surrounding Variants
6 papers
NM_199242.3
p.Q903_A904Splc
c.2709+1G>A
1 paper
NM_199242.3
p.Q903_A904Splc
c.2709+6G>T
8 papers
NM_199242.3
p.R899*
c.2695C>T
4 papers
NM_199242.3
p.L891P
c.2672T>C
1 paper
NM_199242.3
p.Q903_A904Splc
c.2709+48C>T
7 papers
NM_199242.3
p.Q884*
c.2650C>T
2 papers
NM_199242.3
p.L881P
c.2642T>C
2 papers
NM_199242.3
p.Q875_A876Splc
c.2626-1G>A
1 paper
NM_199242.3
p.Q903_A904Splc
c.2710-1G>A
1 paper
NM_199242.3
p.S908C
c.2723C>G
2 papers
NM_199242.3
p.T907_S908insFs
c.2719_2722dup4
2 papers
NM_199242.3
p.L911_V914delins
c.2732_2740delinsCTC
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