Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.Q51_R52Splc

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.Q51_R52Splc
c.154-8T>A
Surrounding Variants
1 paper
NM_199242.3
p.Q51_R52Splc
c.154-1G>C
2 papers
NM_199242.3
p.Q51_R52Splc
c.154-19G>A
1 paper
NM_199242.3
p.A53T
c.157G>A
1 paper
NM_199242.3
p.L54L
c.160C>T
2 papers
NM_199242.3
p.L55F
c.163C>T
2 papers
NM_199242.3
p.E57*
c.169G>T
1 paper
NM_199242.3
p.E57K
c.169G>A
1 paper
NM_199242.3
p.A59S
c.175G>T
1 paper
NM_199242.3
p.A59P
c.175G>C
20 papers
NM_199242.3
p.A59T
c.175G>A
1 paper
NM_199242.3
p.A59fs
c.175_176fs
1 paper
NM_199242.3
p.A59_L60delFs
c.177_178delGT
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."