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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FXYD2

FXYD2

52 papers

RefSeq Summary

This gene encodes a member of the FXYD family of transmembrane proteins. This particular protein encodes the sodium/potassium-transporting ATPase subunit gamma. Mutations in this gene have been associ...

Pfam Domains

ATP1G1_PLM_MAT8aa 14–61UCSCATP1G1/PLM/MAT8 family

Gene Aliases

HGNC Name

FXYD domain containing ion transport regulator 2

HGNC Previous Symbols

ATP1G1; HOMG2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 25 variants

36 papers

chr11:117822424 C>G

NM_001680.5

p.G41R

c.121G>C

ATP1G1_PLM_MAT8

exact variant not in gnomAD17 overlapping SVs

36 papers

chr11:117822424 C>T

NM_001680.5

p.G41R

c.121G>A

ATP1G1_PLM_MAT8

Exome: 0.0% (AC=1, hom=0)Genome: n/a17 overlapping SVs

2 papers

chr11:117820883 C>T

NM_001680.5

p.R51H

c.152G>A

ATP1G1_PLM_MAT8

Exome: 0.0% (AC=6, hom=0)Genome: n/a18 overlapping SVs

1 paper

chr11:117824678 T>A

NM_001680.5

p.M1L

c.1A>T

exact variant not in gnomAD17 overlapping SVs

1 paper

chr11:117824678 T>G

NM_001680.5

p.M1L

c.1A>C

exact variant not in gnomAD17 overlapping SVs

1 paper

chr11:117822714 C>T

NM_001680.5

p.G10D

c.29G>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a17 overlapping SVs

1 paper

chr11:117822703 C>T

NM_001680.5

p.G14R

c.40G>A

ATP1G1_PLM_MAT8

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)17 overlapping SVs

1 paper

chr11:117822702 C>T

NM_001680.5

p.G14E

c.41G>A

ATP1G1_PLM_MAT8

exact variant not in gnomAD17 overlapping SVs

1 paper

chr11:117822698 G>A

NM_001680.5

p.D15D

c.45C>T

ATP1G1_PLM_MAT8

Exome: 1.6% (AC=22815, hom=205)Genome: 1.1% (AC=1713, hom=17)17 overlapping SVs

1 paper

chr11:117822691 G>T

NM_001680.5

p.P18T

c.52C>A

ATP1G1_PLM_MAT8

exact variant not in gnomAD17 overlapping SVs

1 paper

chr11:117822680 A>G

NM_001680.5

p.Y21Y

c.63T>C

ATP1G1_PLM_MAT8

Exome: 0.0% (AC=38, hom=0)Genome: 0.0% (AC=3, hom=0)17 overlapping SVs

1 paper

chr11:117822465 C>T

NM_001680.5

p.R27H

c.80G>A

ATP1G1_PLM_MAT8

Exome: 0.0% (AC=23, hom=0)Genome: n/a17 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."