Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.L4delFs

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.L4delFs
c.12delG
Surrounding Variants
3 papers
NM_199242.3
p.L4F
c.10C>T
1 paper
NM_199242.3
p.T3T
c.9A>G
1 paper
NM_199242.3
p.T3insFs
c.8_9insC
1 paper
NM_199242.3
p.M1_A2del2
c.1_5del6
1 paper
NM_199242.3
p.T3insFs
c.7_8insC
3 papers
NM_199242.3
p.A2V
c.5C>T
1 paper
NM_199242.3
p.M1_A2insFs
c.3_4insA
1 paper
NM_199242.3
p.M1I
c.3G>A
1 paper
NM_199242.3
p.M1delFs
c.1_2delAT
1 paper
NM_199242.3
p.M1R
c.2T>G
2 papers
NM_199242.3
p.M1T
c.2T>C
1 paper
NM_199242.3
p.M1V
c.1A>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."