Varaico: Literature-Extracted Genetic Variants

Gene:ESX1
Variant:p.P347R

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
16 papers
NM_153448.4
p.P347R
c.1040C>G
Surrounding Variants
1 paper
NM_153448.4
p.P347fs
c.1039_1040fs
2 papers
NM_153448.4
p.P347ins9
c.1039_1040ins27
9 papers
NM_153448.4
p.L348V
c.1042C>G
1 paper
NM_153448.4
p.P347_P352delFs
c.1040_1055del16
1 paper
NM_153448.4
p.P353fs
c.1057_1058fs
1 paper
NM_153448.4
p.P353_M354delFs
c.1057_1060del4
4 papers
NM_153448.4
p.V339L
c.1015G>T
1 paper
NM_153448.4
p.A355fs
c.1063_1064fs
4 papers
NM_153448.4
p.V339L
c.1015G>C
3 papers
NM_153448.4
p.R338P
c.1013G>C
3 papers
NM_153448.4
p.P356R
c.1067C>G
2 papers
NM_153448.4
p.L357V
c.1069C>G
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