Varaico: Literature-Extracted Genetic Variants

Gene:SLC9A6
Variant:p.R491K

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
Selected Variant
2 papers
NM_001379110.1
p.R491K
c.1472G>A
Surrounding Variants
1 paper
NM_001379110.1
p.Y488_C489insFs
c.1464_1465insT
3 papers
NM_001379110.1
p.R500*
c.1498A>T
1 paper
NM_001379110.1
p.G502_L503insFs
c.1505_1509dup5
1 paper
NM_001379110.1
p.F512_G513del2
c.1534_1538del6
2 papers
NM_001379110.1
p.D516_R517insFs
c.1548_1549insT
1 paper
NM_001379110.1
p.G519S
c.1555G>A
2 papers
NM_001379110.1
p.V520insFs
c.1560dupT
1 paper
NM_006359.3
p.S512_D513del2
c.1534_1538del6
2 papers
NM_001042537.2
p.S544*
c.1631C>A
2 papers
NM_001042537.2
p.S544*
c.1631C>G
1 paper
NM_001379110.1
p.D523_E525delFs
c.1569_1573del5
8 papers
NM_001042537.2
p.E547*
c.1639G>T
NM_006359.3
p.E515*
c.1543G>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."