Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.D615_E616ins0

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
2 papers
NM_199242.3
p.D615_E616ins0
c.1845_1847dupTGA
Surrounding Variants
2 papers
NM_199242.3
p.E616_L617Splc
c.1848+1G>C
13 papers
NM_199242.3
p.E616G
c.1847A>G
1 paper
NM_199242.3
p.D615G
c.1844A>G
2 papers
NM_199242.3
p.V608_A611del0
c.1822_1833del12
1 paper
NM_199242.3
p.A611T
c.1831G>A
2 papers
NM_199242.3
p.R610insFs
c.1828_1829insA
1 paper
NM_199242.3
p.R610fs
c.1828_1829fs
4 papers
NM_199242.3
p.Q609*
c.1825C>T
2 papers
NM_199242.3
p.V608fs
c.1822_1823fs
2 papers
NM_199242.3
p.V608delFs
c.1822delC
1 paper
NM_199242.3
p.R607fs
c.1819_1820fs
1 paper
NM_199242.3
p.Y601_R607insFs
c.1803_1819dup17
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."