Varaico: Literature-Extracted Genetic Variants

Gene:ESX1
Variant:p.P320R

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.P320R
c.959C>G
Surrounding Variants
1 paper
NM_153448.4
p.M318K
c.953T>A
5 papers
NM_153448.4
p.P323T
c.967C>A
1 paper
NM_153448.4
p.T314fs
c.940_941fs
3 papers
NM_153448.4
p.T314P
c.940A>C
1 paper
NM_153448.4
p.A328del1
c.982_983delCGC
1 paper
NM_153448.4
p.R329P
c.986G>C
3 papers
NM_153448.4
p.P320_R329del0
c.959_985del27
1 paper
NM_153448.4
p.P320_R329del10
c.958_986del30
1 paper
NM_153448.4
p.P307R
c.920C>G
3 papers
NM_153448.4
p.W306G
c.916T>G
1 paper
NM_153448.4
p.P305T
c.913C>A
3 papers
NM_153448.4
p.R338P
c.1013G>C
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