Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.M441V

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.M441V
c.1321A>G
Surrounding Variants
1 paper
NM_199242.3
p.M441T
c.1322T>C
1 paper
NM_199242.3
p.K442fs
c.1324_1325fs
1 paper
NM_199242.3
p.K442delFs
c.1325_1326delCT
1 paper
NM_199242.3
p.F444I
c.1330T>A
1 paper
NM_199242.3
p.Q437Q
c.1311G>A
1 paper
NM_199242.3
p.E446A
c.1337A>C
1 paper
NM_199242.3
p.R433Splc
c.1299-1G>A
1 paper
NM_199242.3
p.T451I
c.1352C>T
1 paper
NM_199242.3
p.A452T
c.1354G>A
1 paper
NM_199242.3
p.P453delFs
c.1358delG
1 paper
NM_199242.3
p.L457M
c.1369C>A
2 papers
NM_199242.3
p.T459I
c.1376C>T
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