Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.H65Y

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.H65Y
c.193C>T
Surrounding Variants
2 papers
NM_199242.3
p.R66C
c.196C>T
1 paper
NM_199242.3
p.T62_H65delFs
c.185_195del11
1 paper
NM_199242.3
p.V63F
c.187G>T
1 paper
NM_199242.3
p.G68C
c.202G>T
1 paper
NM_199242.3
p.T62A
c.184A>G
4 papers
NM_199242.3
p.Y61C
c.182A>G
1 paper
NM_199242.3
p.Y61fs
c.181_182fs
1 paper
NM_199242.3
p.A59_L60delFs
c.177_178delGT
1 paper
NM_199242.3
p.A59fs
c.175_176fs
1 paper
NM_199242.3
p.A59S
c.175G>T
1 paper
NM_199242.3
p.A59P
c.175G>C
20 papers
NM_199242.3
p.A59T
c.175G>A
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