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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC9A8

Variant:p.Q259H

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

chr20:49862992 A>T

NM_015266.3

p.Q259H

c.777A>T

Na_H_Exchanger

exact variant not in gnomAD10 overlapping SVs

Surrounding Variants

1 paper

chr20:49862992 A>C

NM_015266.3

p.Q259H

c.777A>C

Na_H_Exchanger

exact variant not in gnomAD10 overlapping SVs

1 paper

chr20:49863029 G>GN

NM_015266.3

p.A272fs

c.814_815fs

Na_H_Exchanger

exact variant not in gnomAD10 overlapping SVs

1 paper

chr20:49863030 CA>C

NM_015266.3

p.A272delFs

c.816delA

Na_H_Exchanger

Exome: 0.0% (AC=2, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr20:49863062 G>T

NM_015266.3

p.A283S

c.847G>T

Na_H_Exchanger

Exome: 0.0% (AC=1, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr20:49864826 G>A

NM_015266.3

p.E314K

c.940G>A

Na_H_Exchanger

exact variant not in gnomAD10 overlapping SVs

1 paper

chr20:49855541 G>C

NM_015266.3

p.E225Q

c.673G>C

Na_H_Exchanger

exact variant not in gnomAD11 overlapping SVs

1 paper

chr20:49855497 A>G

NM_015266.3

p.N210S

c.629A>G

Na_H_Exchanger

Exome: 0.0% (AC=485, hom=4)Genome: 0.0% (AC=44, hom=0)11 overlapping SVs

1 paper

chr20:49855438 T>C

NM_015266.3

p.S190S

c.570T>C

Na_H_Exchanger

Exome: 0.0% (AC=167, hom=0)Genome: 0.0% (AC=10, hom=0)11 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."