Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.I519T

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.I519T
c.1556T>C
Surrounding Variants
1 paper
NM_199242.3
p.I519N
c.1556T>A
2 papers
NM_199242.3
p.N515Splc
c.1545-1G>T
1 paper
NM_199242.3
p.N515Splc
c.1545-2A>G
1 paper
NM_199242.3
p.F526delFs
c.1576delA
10 papers
NM_199242.3
p.R527W
c.1579C>T
1 paper
NM_199242.3
p.L529P
c.1586T>C
1 paper
NM_199242.3
p.W531delFs
c.1591delA
19 papers
NM_199242.3
p.L532_V533Splc
c.1596+1G>C
1 paper
NM_199242.3
p.L532_V533Splc
c.1596+36A>G
1 paper
NM_199242.3
p.L532_V533Splc
c.1597-2A>T
1 paper
NM_199242.3
p.V533fs
c.1597_1598fs
1 paper
NM_199242.3
p.A534T
c.1600G>A
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