Varaico: Literature-Extracted Genetic Variants

Gene:SLC9A3
Variant:p.Y163C

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
1 paper
NM_004174.4
p.Y163C
c.488A>G
Surrounding Variants
2 papers
NM_004174.4
p.V165I
c.493G>A
1 paper
NM_004174.4
p.L167F
c.499C>T
1 paper
NM_004174.4
p.L170H
c.509T>A
1 paper
NM_004174.4
p.A156T
c.466G>A
1 paper
NM_004174.4
p.A155P
c.463G>C
1 paper
NM_004174.4
p.W153delFs
c.458delC
1 paper
NM_004174.4
p.W153*
c.458G>A
1 paper
NM_004174.4
p.A147T
c.439G>A
2 papers
NM_004174.4
p.G138S
c.412G>A
2 papers
NM_004174.4
p.F137F
c.411C>T
1 paper
NM_004174.4
p.F136C
c.407T>G
1 paper
NM_004174.4
p.L135L
c.405C>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."