Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.I283V

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
4 papers
NM_199242.3
p.I283V
c.847A>G
Surrounding Variants
1 paper
NM_199242.3
p.Q281P
c.842A>C
1 paper
NM_199242.3
p.R286W
c.856C>T
2 papers
NM_199242.3
p.R286insFs
c.856_857insG
5 papers
NM_199242.3
p.K285del1
c.853_855delCTT
1 paper
NM_199242.3
p.H284_K285delFs
c.852_855del4
1 paper
NM_199242.3
p.I283_K285del3
c.847_854del9
2 papers
NM_199242.3
p.R286_R287Splc
c.858+1G>A
1 paper
NM_199242.3
p.Q275*
c.823C>T
8 papers
NM_199242.3
p.R273*
c.817C>T
1 paper
NM_199242.3
p.D272E
c.816C>G
1 paper
NM_199242.3
p.D272E
c.816C>A
1 paper
NM_199242.3
p.Y270insFs
c.810dupC
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."