Varaico: Literature-Extracted Genetic Variants

Gene:SLC9A3
Variant:p.M352I

SLC9A3

176 papers

RefSeq Summary

The protein encoded by this gene is an epithelial brush border Na/H exchanger that uses an inward sodium ion gradient to expel acids from the cell. Defects in this gene are a cause of congenital secre...

Pfam Domains

Na_H_Exchangeraa 62–462UCSCSodium/hydrogen exchanger, transmembrane

Gene Aliases

HGNC Name

solute carrier family 9 member A3

HGNC Previous Symbol

NHE3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_004174.4
p.M352I
c.1056G>T
Surrounding Variants
2 papers
NM_004174.4
p.M352I
c.1056G>C
2 papers
NM_004174.4
p.M352I
c.1056G>A
1 paper
NM_004174.4
p.M352fs
c.1054_1055fs
1 paper
NM_004174.4
p.I349S
c.1046T>G
1 paper
NM_004174.4
p.T348A
c.1042A>G
1 paper
NM_004174.4
p.E347A
c.1040A>C
1 paper
NM_004174.4
p.E347insFs
c.1040_1041insT
2 papers
NM_004174.4
p.E347K
c.1039G>A
1 paper
NM_004174.4
p.E347fs
c.1039_1040fs
1 paper
NM_004174.4
p.S345G
c.1033A>G
1 paper
NM_004174.4
p.S344delFs
c.1031delC
1 paper
NM_004174.4
p.P361S
c.1081C>T
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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."