Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.W509*

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.W509*
c.1526G>A
Surrounding Variants
1 paper
NM_199242.3
p.C505_Q506insFs
c.1515_1516insT
1 paper
NM_199242.3
p.L502L
c.1504C>T
3 papers
NM_199242.3
p.D497E
c.1491T>A
1 paper
NM_199242.3
p.V495G
c.1484T>G
1 paper
NM_199242.3
p.K489*
c.1465A>T
1 paper
NM_199242.3
p.E486G
c.1457A>G
1 paper
NM_199242.3
p.P485L
c.1454C>T
1 paper
NM_199242.3
p.Q482_G483Splc
c.1447-1G>A
1 paper
NM_199242.3
p.N515Splc
c.1545-2A>G
2 papers
NM_199242.3
p.N515Splc
c.1545-1G>T
1 paper
NM_199242.3
p.I519T
c.1556T>C
1 paper
NM_199242.3
p.I519N
c.1556T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."