Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.S908C

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.S908C
c.2723C>G
Surrounding Variants
2 papers
NM_199242.3
p.T907_S908insFs
c.2719_2722dup4
1 paper
NM_199242.3
p.Q903_A904Splc
c.2710-1G>A
2 papers
NM_199242.3
p.L911_V914delins
c.2732_2740delinsCTC
3 papers
NM_199242.3
p.A918D
c.2753C>A
2 papers
NM_199242.3
p.S919F
c.2756C>T
3 papers
NM_199242.3
p.Y920C
c.2759A>G
21 papers
NM_199242.3
p.R928C
c.2782C>T
4 papers
NM_199242.3
p.R928P
c.2783G>C
1 paper
NM_199242.3
p.R928H
c.2783G>A
1 paper
NM_199242.3
p.Q903_A904Splc
c.2709+48C>T
1 paper
NM_199242.3
p.L932P
c.2795T>C
1 paper
NM_199242.3
p.P939T
c.2815C>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."