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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC9A9

Variant:p.L236S

SLC9A9

93 papers

RefSeq Summary

This gene encodes a sodium/proton exchanger that is a member of the solute carrier 9 protein family. The encoded protein localizes the to the late recycling endosomes and may play an important role in...

Pfam Domains

Na_H_Exchangeraa 30–486UCSCSodium/hydrogen exchanger, transmembrane

Gene Aliases

HGNC Name

solute carrier family 9 member A9

HGNC Alias Symbols

FLJ35613; NHE9

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

6 papers

chr3:143652303 A>G

NM_173653.4

p.L236S

c.707T>C

Na_H_Exchanger

Exome: 0.0% (AC=569, hom=5)Genome: 0.4% (AC=551, hom=6)72 overlapping SVs

Surrounding Variants

1 paper

chr3:143652280 C>T

NM_173653.4

p.D244N

c.730G>A

Na_H_Exchanger

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=2, hom=0)72 overlapping SVs

2 papers

chr3:143652279 T>G

NM_173653.4

p.D244A

c.731A>C

Na_H_Exchanger

exact variant not in gnomAD72 overlapping SVs

1 paper

chr3:143652333 A>G

NM_173653.4

p.L226P

c.677T>C

Na_H_Exchanger

exact variant not in gnomAD72 overlapping SVs

1 paper

chr3:143652340 G>A

NM_173653.4

p.H224Y

c.670C>T

Na_H_Exchanger

Exome: 0.0% (AC=2, hom=0)Genome: n/a72 overlapping SVs

1 paper

chr3:143652341 G>A

NM_173653.4

p.F223F

c.669C>T

Na_H_Exchanger

exact variant not in gnomAD72 overlapping SVs

1 paper

chr3:143652345 A>C

NM_173653.4

p.I222S

c.665T>G

Na_H_Exchanger

exact variant not in gnomAD72 overlapping SVs

1 paper

chr3:143652346 T>G

NM_173653.4

p.I222L

c.664A>C

Na_H_Exchanger

exact variant not in gnomAD72 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."