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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FXYD6

FXYD6

8 papers

RefSeq Summary

This gene encodes a member of the FXYD family of transmembrane proteins. This particular protein encodes phosphohippolin, which likely affects the activity of Na,K-ATPase. Multiple alternatively splic...

Pfam Domains

ATP1G1_PLM_MAT8aa 25–72UCSCATP1G1/PLM/MAT8 family

Gene Aliases

HGNC Name

FXYD domain containing ion transport regulator 6

HGNC Previous Name

FXYD domain-containing ion transport regulator 6

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr11:117842758 AGAC>A

NM_022003.4

p.V6del1

c.16_18delGAC

exact variant not in gnomAD16 overlapping SVs

1 paper

chr11:117842722 TGGCCAGGAC>T

NM_022003.4

p.V16_A18del3

c.46_53del9

exact variant not in gnomAD16 overlapping SVs

1 paper

chr11:117842713 A>G

NM_022003.4

p.A20Splc

c.58+6T>C

Exome: 0.0% (AC=29, hom=0)Genome: 0.0% (AC=3, hom=0)16 overlapping SVs

1 paper

chr11:117841182 G>A

NM_022003.4

p.R59C

c.175C>T

ATP1G1_PLM_MAT8

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=1, hom=0)16 overlapping SVs

1 paper

chr11:117840361 C>G

NM_022003.4

p.G73R

c.217G>C

ATP1G1_PLM_MAT8

Exome: 0.3% (AC=4857, hom=8)Genome: 0.2% (AC=307, hom=0)16 overlapping SVs

1 paper

chr11:117840361 C>T

NM_022003.4

p.G73R

c.217G>A

ATP1G1_PLM_MAT8

exact variant not in gnomAD16 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."