Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.L457M

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.L457M
c.1369C>A
Surrounding Variants
2 papers
NM_199242.3
p.T459I
c.1376C>T
1 paper
NM_199242.3
p.P453delFs
c.1358delG
1 paper
NM_199242.3
p.A452T
c.1354G>A
1 paper
NM_199242.3
p.T451I
c.1352C>T
3 papers
NM_199242.3
p.Q463*
c.1387C>T
2 papers
NM_199242.3
p.Q463P
c.1388A>C
1 paper
NM_199242.3
p.Q463H
c.1389G>T
1 paper
NM_199242.3
p.Q463H
c.1389G>C
1 paper
NM_199242.3
p.Q463_T464Splc
c.1389+1G>C
10 papers
NM_199242.3
p.Q463_T464Splc
c.1389+1G>A
1 paper
NM_199242.3
p.E446A
c.1337A>C
1 paper
NM_199242.3
p.F444I
c.1330T>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."