Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.R228Splc

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.R228Splc
c.684-1G>A
Surrounding Variants
1 paper
NM_199242.3
p.R228Splc
c.684-2A>C
1 paper
NM_199242.3
p.I229fs
c.685_686fs
1 paper
NM_199242.3
p.R234W
c.700C>T
1 paper
NM_199242.3
p.R234delFs
c.701delC
2 papers
NM_199242.3
p.D236fs
c.706_707fs
2 papers
NM_199242.3
p.D236delFs
c.706delC
1 paper
NM_199242.3
p.D240N
c.718G>A
1 paper
NM_199242.3
p.D241N
c.721G>A
1 paper
NM_199242.3
p.L243P
c.728T>C
1 paper
NM_199242.3
p.G244W
c.730G>T
1 paper
NM_199242.3
p.G244E
c.731G>A
1 paper
NM_199242.3
p.V247G
c.740T>G
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."