Varaico: Literature-Extracted Genetic Variants

Gene:SLC9A8

SLC9A8

35 papers

RefSeq Summary

Sodium-hydrogen exchangers (NHEs), such as SLC9A8, are integral transmembrane proteins that exchange extracellular Na+ for intracellular H+. NHEs have multiple functions, including intracellular pH ho...

Pfam Domains

Na_H_Exchangeraa 66–473UCSCSodium/hydrogen exchanger, transmembrane

Gene Aliases

HGNC Name

solute carrier family 9 member A8

HGNC Alias Symbols

KIAA0939; NHE8

Papers
RefSeq ID
Protein change
DNA change
1–12 of 41 variants
2 papers
NM_015266.3
p.M120K
c.359T>A
2 papers
NM_015266.3
p.R122H
c.365G>A
1 paper
NM_015266.3
p.M1I
c.3G>T
1 paper
NM_015266.3
p.E3G
c.8A>G
1 paper
NM_015266.3
p.E9*
c.25G>T
1 paper
NM_015266.3
p.L23V
c.67C>G
1 paper
NM_015266.3
p.P36_I42delFs
c.108_126del19
1 paper
NM_015266.3
p.Q53delFs
c.159delA
1 paper
NM_015266.3
p.E54_E55insFs
c.162_163ins7
1 paper
NM_015266.3
p.Q56_S57ins1
c.168_169insGCG
1 paper
NM_015266.3
p.I107T
c.320T>C
1 paper
NM_015266.3
p.K144_G145Splc
c.432+2T>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."