Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.S401T

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.S401T
c.1201T>A
Surrounding Variants
1 paper
NM_199242.3
p.S401F
c.1202C>T
1 paper
NM_199242.3
p.S401Y
c.1202C>A
1 paper
NM_199242.3
p.S401delins
c.1201_1202delinsAA
1 paper
NM_199242.3
p.S400I
c.1199G>T
1 paper
NM_199242.3
p.L403_T404insC
c.1207_1211ins3
9 papers
NM_199242.3
p.L403P
c.1208T>C
3 papers
NM_199242.3
p.S398L
c.1193C>T
1 paper
NM_199242.3
p.A397_S398insFs
c.1191_1192insTG
3 papers
NM_199242.3
p.A397T
c.1189G>A
1 paper
NM_199242.3
p.Y405*
c.1215C>G
1 paper
NM_199242.3
p.Y405*
c.1215C>A
1 paper
NM_199242.3
p.E394_L395insFs
c.1182_1183insT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."