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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC9A9

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

1–12 of 133 variants

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

6 papers

chr3:143493656 A>G

NM_173653.4

p.S438P

c.1312T>C

Na_H_Exchanger

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=1, hom=0)72 overlapping SVs

4 papers

chr3:143795008 C>T

NM_173653.4

p.V176I

c.526G>A

Na_H_Exchanger

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)75 overlapping SVs

4 papers

chr3:143493701 G>A

NM_173653.4

p.R423*

c.1267C>T

Na_H_Exchanger

Exome: 0.0% (AC=32, hom=0)Genome: 0.0% (AC=5, hom=0)72 overlapping SVs

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

4 papers

chr3:143266875 T>C

NM_173653.4

p.I589V

c.1765A>G

Exome: 3.3% (AC=47852, hom=921)Genome: 2.4% (AC=3597, hom=77)74 overlapping SVs

3 papers

chr3:143832048 G>T

NM_173653.4

p.P117T

c.349C>A

Na_H_Exchanger

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=1, hom=0)76 overlapping SVs

3 papers

chr3:143495339 G>C

NM_173653.4

p.A400G

c.1199C>G

Na_H_Exchanger

Exome: 0.0% (AC=363, hom=0)Genome: 0.0% (AC=36, hom=0)72 overlapping SVs

3 papers

chr3:143493743 C>G

NM_173653.4

p.A409P

c.1225G>C

Na_H_Exchanger

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

2 papers

chr3:143832154 A>C

NM_173653.4

p.Y81*

c.243T>G

Na_H_Exchanger

exact variant not in gnomAD76 overlapping SVs

2 papers

chr3:143832154 A>T

NM_173653.4

p.Y81*

c.243T>A

Na_H_Exchanger

Exome: 0.0% (AC=4, hom=0)Genome: n/a76 overlapping SVs

2 papers

chr3:143794999 A>T

NM_173653.4

p.G178Splc

c.533+2T>A

exact variant not in gnomAD75 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."