Varaico: Literature-Extracted Genetic Variants

Gene:SLC9A6
Variant:p.W318L

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
1 paper
NM_001379110.1
p.W318L
c.953G>T
Surrounding Variants
1 paper
NM_001379110.1
p.W318delFs
c.953_954delGG
1 paper
NM_001042537.2
p.T372del1
c.1114_1115delACC
2 papers
NM_006359.3
p.W338_T340del0
c.1012_1020del9
1 paper
NM_001379110.1
p.T320T
c.960C>T
1 paper
NM_006359.3
p.L335_M336del2
c.1003_1007del6
1 paper
NM_001379110.1
p.A324V
c.971C>T
1 paper
NM_001379110.1
p.G328S
c.982G>A
4 papers
NM_001379110.1
p.Q306*
c.916C>T
NM_006359.3
p.Q326*
c.976C>T
9 papers
NM_006359.3
p.G351D
c.1052G>A
NM_001042537.2
p.G383D
c.1148G>A
1 paper
NM_001379110.1
p.R303L
c.908G>T
1 paper
NM_006359.3
p.K318delFs
c.953_954delAG
1 paper
NM_001379110.1
p.L295_V296Splc
c.886-1C>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."