Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.E575fs

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.E575fs
c.1723_1724fs
Surrounding Variants
1 paper
NM_199242.3
p.R576fs
c.1726_1727fs
4 papers
NM_199242.3
p.E575insFs
c.1723_1724insA
1 paper
NM_199242.3
p.S574insFs
c.1721_1722insA
1 paper
NM_199242.3
p.C567Y
c.1700G>A
4 papers
NM_199242.3
p.E565delFs
c.1693delC
3 papers
NM_199242.3
p.E565fs
c.1693_1694fs
1 paper
NM_199242.3
p.Q558H
c.1674G>T
1 paper
NM_199242.3
p.E554delFs
c.1660delC
1 paper
NM_199242.3
p.R576Splc
c.1728-48T>C
1 paper
NM_199242.3
p.T542M
c.1625C>T
1 paper
NM_199242.3
p.V537L
c.1609G>T
1 paper
NM_199242.3
p.V537L
c.1609G>C
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