Varaico: Literature-Extracted Genetic Variants

Gene:SLC9A3
Variant:p.D505N

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.D505N
c.1513G>A
Surrounding Variants
1 paper
NM_004174.4
p.H500D
c.1498C>G
3 papers
NM_004174.4
p.G496R
c.1486G>C
3 papers
NM_004174.4
p.G496R
c.1486G>A
1 paper
NM_004174.4
p.I491V
c.1471A>G
2 papers
NM_004174.4
p.R482_A483Splc
c.1446+1G>A
1 paper
NM_004174.4
p.R482G
c.1444C>G
1 paper
NM_004174.4
p.G481G
c.1443G>C
1 paper
NM_004174.4
p.G481R
c.1441G>C
1 paper
NM_004174.4
p.G481R
c.1441G>A
1 paper
NM_004174.4
p.R474Q
c.1421G>A
1 paper
NM_004174.4
p.E472D
c.1416A>T
1 paper
NM_004174.4
p.E472D
c.1416A>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."