Varaico: Literature-Extracted Genetic Variants

Gene:ESX1

ESX1

76 papers

RefSeq Summary

This gene encodes a dual-function 65 kDa protein that undergoes proteolytic cleavage to produce a 45 kDa N-terminal fragment with a paired-like homeodomain and a 20 kDa C-terminal fragment with a prol...

Pfam Domains

Homeodomainaa 140–196UCSCHomeodomain

Gene Aliases

HGNC Name

ESX homeobox 1

HGNC Previous Symbol

ESX1L

Papers
RefSeq ID
Protein change
DNA change
1–12 of 68 variants
16 papers
NM_153448.4
p.P347R
c.1040C>G
9 papers
NM_153448.4
p.L348V
c.1042C>G
5 papers
NM_153448.4
p.P323T
c.967C>A
5 papers
NM_153448.4
p.P365R
c.1094C>G
4 papers
NM_153448.4
p.R281H
c.842G>A
4 papers
NM_153448.4
p.P320R
c.959C>G
4 papers
NM_153448.4
p.V339L
c.1015G>T
4 papers
NM_153448.4
p.V339L
c.1015G>C
4 papers
NM_153448.4
p.L366V
c.1096C>G
3 papers
NM_153448.4
p.M202L
c.604A>T
3 papers
NM_153448.4
p.M202L
c.604A>C
3 papers
NM_153448.4
p.A292T
c.874G>A
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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."