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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC9A8

Variant:p.I107T

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr20:49839571 T>C

NM_015266.3

p.I107T

c.320T>C

Na_H_Exchanger

Exome: 0.0% (AC=31, hom=0)Genome: 0.0% (AC=9, hom=0)11 overlapping SVs

Surrounding Variants

2 papers

chr20:49845046 T>A

NM_015266.3

p.M120K

c.359T>A

Na_H_Exchanger

exact variant not in gnomAD11 overlapping SVs

2 papers

chr20:49845052 G>A

NM_015266.3

p.R122H

c.365G>A

Na_H_Exchanger

Exome: 0.0% (AC=22, hom=0)Genome: 0.0% (AC=1, hom=0)11 overlapping SVs

1 paper

chr20:49845121 T>A

NM_015266.3

p.K144_G145Splc

c.432+2T>A

exact variant not in gnomAD11 overlapping SVs

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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."