Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.K867E

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
15 papers
NM_199242.3
p.K867E
c.2599A>G
Surrounding Variants
1 paper
NM_199242.3
p.G863A
c.2588G>C
35 papers
NM_199242.3
p.G863D
c.2588G>A
2 papers
NM_199242.3
p.A859T
c.2575G>A
3 papers
NM_199242.3
p.F857C
c.2570T>G
1 paper
NM_199242.3
p.C856_F857insG
c.2566_2570ins3
1 paper
NM_199242.3
p.L853_I855del3
c.2557_2564del9
1 paper
NM_199242.3
p.N852_I855del4
c.2554_2564del12
1 paper
NM_199242.3
p.E854insFs
c.2560dupG
1 paper
NM_199242.3
p.E854fs
c.2560_2561fs
5 papers
NM_199242.3
p.Q851_N852Splc
c.2553+5C>G
1 paper
NM_199242.3
p.L850R
c.2549T>G
2 papers
NM_199242.3
p.I848delFs
c.2544delA
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