Varaico: Literature-Extracted Genetic Variants

Gene:ESX1
Variant:p.L366V

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
Selected Variant
4 papers
NM_153448.4
p.L366V
c.1096C>G
Surrounding Variants
5 papers
NM_153448.4
p.P365R
c.1094C>G
1 paper
NM_153448.4
p.G369R
c.1105G>C
1 paper
NM_153448.4
p.G369R
c.1105G>A
1 paper
NM_153448.4
p.A355_L357delFs
c.1063_1069del7
2 papers
NM_153448.4
p.L357V
c.1069C>G
3 papers
NM_153448.4
p.P356R
c.1067C>G
1 paper
NM_153448.4
p.A355fs
c.1063_1064fs
1 paper
NM_153448.4
p.P353_M354delFs
c.1057_1060del4
1 paper
NM_153448.4
p.G369_P377ins3
c.1105_1131dup27
1 paper
NM_153448.4
p.G369_P377del0
c.1105_1131del27
1 paper
NM_153448.4
p.P353fs
c.1057_1058fs
1 paper
NM_153448.4
p.P347_P352delFs
c.1040_1055del16
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