Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.R411Q

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
13 papers
NM_199242.3
p.R411Q
c.1232G>A
Surrounding Variants
1 paper
NM_199242.3
p.R411fs
c.1231_1232fs
1 paper
NM_199242.3
p.I410insFs
c.1229_1230dupTC
1 paper
NM_199242.3
p.R412K
c.1235G>A
5 papers
NM_199242.3
p.I410L
c.1228A>C
2 papers
NM_199242.3
p.L409fs
c.1225_1226fs
2 papers
NM_199242.3
p.L409delFs
c.1225delG
1 paper
NM_199242.3
p.L409fs
c.1225_1226fs
8 papers
NM_199242.3
p.R414C
c.1240C>T
1 paper
NM_199242.3
p.R414insFs
c.1240_1241ins4
9 papers
NM_199242.3
p.R414L
c.1241G>T
1 paper
NM_199242.3
p.R414H
c.1241G>A
1 paper
NM_199242.3
p.S415C
c.1244C>G
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