Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.R83fs

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.R83fs
c.247_248fs
Surrounding Variants
8 papers
NM_199242.3
p.R83*
c.247C>T
2 papers
NM_199242.3
p.L82L
c.244C>T
1 paper
NM_199242.3
p.L81ins4
c.241_242ins12
1 paper
NM_199242.3
p.E87Q
c.259G>C
4 papers
NM_199242.3
p.T76M
c.227C>T
1 paper
NM_199242.3
p.E87_A88Splc
c.261+8C>T
1 paper
NM_199242.3
p.N73fs
c.217_218fs
2 papers
NM_199242.3
p.P72delFs
c.214delG
2 papers
NM_199242.3
p.P72fs
c.214_215fs
1 paper
NM_199242.3
p.G68_E71del4
c.202_212del12
1 paper
NM_199242.3
p.E87_A88Splc
c.261+26C>T
1 paper
NM_199242.3
p.G68C
c.202G>T
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