Varaico: Literature-Extracted Genetic Variants

Gene:SLC9A3
Variant:p.T109P

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.T109P
c.325A>C
Surrounding Variants
1 paper
NM_004174.4
p.L110V
c.328C>G
1 paper
NM_004174.4
p.T113I
c.338C>T
1 paper
NM_004174.4
p.F115V
c.343T>G
1 paper
NM_004174.4
p.A101V
c.302C>T
1 paper
NM_004174.4
p.F117I
c.349T>A
1 paper
NM_004174.4
p.F117del1
c.349_350delGAA
1 paper
NM_004174.4
p.V99I
c.295G>A
1 paper
NM_004174.4
p.L120L
c.360G>C
1 paper
NM_004174.4
p.L95Q
c.284T>A
1 paper
NM_004174.4
p.P122P
c.366C>G
1 paper
NM_004174.4
p.V124M
c.370G>A
2 papers
NM_004174.4
p.L125P
c.374T>C
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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."