Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.Y601*

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.Y601*
c.1803C>A
Surrounding Variants
1 paper
NM_199242.3
p.Y601*
c.1803C>G
1 paper
NM_199242.3
p.E603*
c.1807G>T
1 paper
NM_199242.3
p.T600M
c.1799C>T
2 papers
NM_199242.3
p.W596L
c.1787G>T
1 paper
NM_199242.3
p.Y601_R607insFs
c.1803_1819dup17
10 papers
NM_199242.3
p.R607P
c.1820G>C
1 paper
NM_199242.3
p.R607fs
c.1819_1820fs
2 papers
NM_199242.3
p.V608delFs
c.1822delC
2 papers
NM_199242.3
p.V608fs
c.1822_1823fs
4 papers
NM_199242.3
p.Q609*
c.1825C>T
2 papers
NM_199242.3
p.R610insFs
c.1828_1829insA
1 paper
NM_199242.3
p.R610fs
c.1828_1829fs
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