Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.L419delFs

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.L419delFs
c.1255delG
Surrounding Variants
1 paper
NM_199242.3
p.L419I
c.1255C>A
1 paper
NM_199242.3
p.L419fs
c.1255_1256fs
1 paper
NM_199242.3
p.S420fs
c.1258_1259fs
1 paper
NM_199242.3
p.S420fs
c.1258_1259fs
2 papers
NM_199242.3
p.S420delFs
c.1259_1260delAG
1 paper
NM_199242.3
p.V421G
c.1262T>G
1 paper
NM_199242.3
p.S415C
c.1244C>G
9 papers
NM_199242.3
p.R414L
c.1241G>T
1 paper
NM_199242.3
p.R414H
c.1241G>A
8 papers
NM_199242.3
p.R414C
c.1240C>T
1 paper
NM_199242.3
p.R414insFs
c.1240_1241ins4
1 paper
NM_199242.3
p.P425A
c.1273C>G
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