Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FXYD4

FXYD4

15 papers

RefSeq Summary

This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conser...

Pfam Domains

ATP1G1_PLM_MAT8aa 25–72UCSCATP1G1/PLM/MAT8 family

Gene Aliases

HGNC Name

FXYD domain containing ion transport regulator 4

HGNC Alias Symbol

CHIF

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr10:43374480 C>A

NM_173160.3

p.A16A

c.48C>A

exact variant not in gnomAD18 overlapping SVs

1 paper

chr10:43374624 G>C

NM_173160.3

p.D28H

c.82G>C

ATP1G1_PLM_MAT8

exact variant not in gnomAD18 overlapping SVs

1 paper

chr10:43374640 A>C

NM_173160.3

p.D33A

c.98A>C

exact variant not in gnomAD18 overlapping SVs

1 paper

chr10:43375522 G>A

NM_173160.3

p.G41R

c.121G>A

ATP1G1_PLM_MAT8

Exome: 0.0% (AC=55, hom=0)Genome: 0.0% (AC=5, hom=0)18 overlapping SVs

1 paper

chr10:43375522 G>C

NM_173160.3

p.G41R

c.121G>C

ATP1G1_PLM_MAT8

exact variant not in gnomAD18 overlapping SVs

1 paper

chr10:43375565 C>T

NM_173160.3

p.A55V

c.164C>T

ATP1G1_PLM_MAT8

Exome: 0.1% (AC=957, hom=13)Genome: 0.6% (AC=988, hom=13)18 overlapping SVs

1 paper

chr10:43375710 G>A

NM_173160.3

p.C63Y

c.188G>A

ATP1G1_PLM_MAT8

Exome: 3.8% (AC=54933, hom=1140)Genome: 2.7% (AC=4061, hom=86)18 overlapping SVs

1 paper

chr10:43376042 G>A

NM_173160.3

p.E75K

c.223G>A

Exome: 0.0% (AC=4, hom=0)Genome: n/a18 overlapping SVs

1 paper

chr10:43376053 C>G

NM_173160.3

p.I78M

c.234C>G

exact variant not in gnomAD18 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."