Varaico: Literature-Extracted Genetic Variants

Gene:SLC9A3
Variant:p.R283H

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.R283H
c.848G>A
Surrounding Variants
1 paper
NM_004174.4
p.R283C
c.847C>T
1 paper
NM_004174.4
p.I284N
c.851T>A
1 paper
NM_004174.4
p.P287T
c.859C>A
1 paper
NM_004174.4
p.G288C
c.862G>T
1 paper
NM_004174.4
p.G288S
c.862G>A
1 paper
NM_004174.4
p.S273L
c.818C>T
1 paper
NM_004174.4
p.S297A
c.889T>G
3 papers
NM_004174.4
p.A269T
c.805G>A
1 paper
NM_004174.4
p.S297S
c.891C>A
1 paper
NM_004174.4
p.Y298H
c.892T>C
1 paper
NM_004174.4
p.T300A
c.898A>G
1 paper
NM_004174.4
p.V266M
c.796G>A
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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."