Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.W260R

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.W260R
c.778T>C
Surrounding Variants
1 paper
NM_199242.3
p.W260R
c.778T>A
1 paper
NM_199242.3
p.P262L
c.785C>T
1 paper
NM_199242.3
p.P262H
c.785C>A
3 papers
NM_199242.3
p.R256Q
c.767G>A
19 papers
NM_199242.3
p.R256*
c.766C>T
3 papers
NM_199242.3
p.R254delFs
c.762delG
1 paper
NM_199242.3
p.C255fs
c.763_764fs
1 paper
NM_199242.3
p.P265R
c.794C>G
1 paper
NM_199242.3
p.R266C
c.796C>T
2 papers
NM_199242.3
p.L253fs
c.757_758fs
1 paper
NM_199242.3
p.R266P
c.797G>C
1 paper
NM_199242.3
p.L253fs
c.757_758fs
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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."