Varaico: Literature-Extracted Genetic Variants

Gene:SLC9A6

SLC9A6

130 papers

RefSeq Summary

This gene encodes a sodium-hydrogen exchanger that is amember of the solute carrier family 9. The encoded protein localizes to early and recycling endosomes and may be involved in regulating endosomal...

Pfam Domains

Na_H_Exchangeraa 27–451UCSCSodium/hydrogen exchanger, transmembrane

Gene Aliases

HGNC Name

solute carrier family 9 member A6

HGNC Alias Symbols

NHE6; KIAA0267; NHE-6

Papers
RefSeq ID
Protein change
DNA change
1–12 of 376 variants
8 papers
NM_001042537.2
p.G383D
c.1148G>A
8 papers
NM_001042537.2
p.W523*
c.1568G>A
8 papers
NM_001042537.2
p.W523*
c.1569G>A
7 papers
NM_001042537.2
p.G383D
c.1148G>A
7 papers
NM_001042537.2
p.R500*
c.1498C>T
7 papers
NM_001042537.2
p.E547*
c.1639G>T
7 papers
NM_001042537.2
p.W570*
c.1710G>A
6 papers
NM_001379110.1
p.M1V
c.1A>G
6 papers
NM_001042537.2
p.R472insFs
c.1414dupA
6 papers
NM_001042537.2
p.W570*
c.1709G>A
5 papers
NM_001042537.2
p.E64*
c.190G>T
5 papers
NM_006359.3
p.R468*
c.1402C>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."