Varaico: Literature-Extracted Genetic Variants

Gene:ESX1
Variant:p.V285A

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
1 paper
NM_153448.4
p.V285A
c.854T>C
Surrounding Variants
4 papers
NM_153448.4
p.R281H
c.842G>A
1 paper
NM_153448.4
p.R290C
c.868C>T
1 paper
NM_153448.4
p.R290H
c.869G>A
2 papers
NM_153448.4
p.S280P
c.838T>C
3 papers
NM_153448.4
p.A292T
c.874G>A
1 paper
NM_153448.4
p.A274A
c.822G>A
1 paper
NM_153448.4
p.M258_I267del10
c.772_800del30
1 paper
NM_153448.4
p.M258_I267del0
c.774_800del27
1 paper
NM_153448.4
p.P305T
c.913C>A
3 papers
NM_153448.4
p.W306G
c.916T>G
1 paper
NM_153448.4
p.P307R
c.920C>G
3 papers
NM_153448.4
p.T314P
c.940A>C
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