Varaico: Literature-Extracted Genetic Variants

Gene:SLC9A3
Variant:p.V449I

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.V449I
c.1345G>A
Surrounding Variants
1 paper
NM_004174.4
p.F451S
c.1352T>C
2 papers
NM_004174.4
p.Q452H
c.1356G>T
2 papers
NM_004174.4
p.Q452H
c.1356G>C
1 paper
NM_004174.4
p.V438V
c.1314C>A
1 paper
NM_004174.4
p.K430E
c.1288A>G
1 paper
NM_004174.4
p.D427D
c.1281T>C
1 paper
NM_004174.4
p.G412A
c.1235G>C
2 papers
NM_004174.4
p.D405G
c.1214A>G
1 paper
NM_004174.4
p.G385S
c.1153G>A
1 paper
NM_004174.4
p.G453S
c.1357G>A
1 paper
NM_004174.4
p.V460M
c.1378G>A
1 paper
NM_004174.4
p.R471W
c.1411C>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."