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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC9A9

Variant:p.D496N

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

4 papers

chr3:143382098 C>T

NM_173653.4

p.D496N

c.1486G>A

Exome: 0.1% (AC=1995, hom=10)Genome: 0.1% (AC=99, hom=0)73 overlapping SVs

Surrounding Variants

1 paper

chr3:143382099 C>G

NM_173653.4

p.L495L

c.1485G>C

exact variant not in gnomAD73 overlapping SVs

1 paper

chr3:143382100 A>G

NM_173653.4

p.L495P

c.1484T>C

Exome: n/aGenome: 0.0% (AC=1, hom=0)73 overlapping SVs

2 papers

chr3:143382107 C>T

NM_173653.4

p.V493M

c.1477G>A

Exome: 0.0% (AC=171, hom=0)Genome: 0.0% (AC=10, hom=0)73 overlapping SVs

1 paper

chr3:143382057 T>C

NM_173653.4

p.Q508_E509Splc

c.1524+3A>G

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=1, hom=0)73 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."