Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.W469C

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.W469C
c.1407G>C
Surrounding Variants
1 paper
NM_199242.3
p.Q475*
c.1423C>T
1 paper
NM_199242.3
p.Q482*
c.1444C>T
2 papers
NM_199242.3
p.Q478_Q482delins
c.1434_1446delinsTGGTGCT
1 paper
NM_199242.3
p.Q463_T464Splc
c.1389+36G>A
1 paper
NM_199242.3
p.Q463_T464Splc
c.1389+1G>C
10 papers
NM_199242.3
p.Q463_T464Splc
c.1389+1G>A
1 paper
NM_199242.3
p.Q463H
c.1389G>T
1 paper
NM_199242.3
p.Q463H
c.1389G>C
2 papers
NM_199242.3
p.Q463P
c.1388A>C
3 papers
NM_199242.3
p.Q463*
c.1387C>T
2 papers
NM_199242.3
p.T459I
c.1376C>T
1 paper
NM_199242.3
p.L457M
c.1369C>A
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