Varaico: Literature-Extracted Genetic Variants

Gene:FXYD1

FXYD1

53 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 24–71UCSCATP1G1/PLM/MAT8 family

Gene Aliases

HGNC Name

FXYD domain containing ion transport regulator 1

HGNC Previous Symbol

PLM

Papers
RefSeq ID
Protein change
DNA change
1–12 of 29 variants
2 papers
NM_021902.4
p.L14I
c.40C>A
2 papers
NM_021902.4
p.G71R
c.211G>A
2 papers
NM_021902.4
p.G71R
c.211G>C
1 paper
NM_021902.4
p.M1I
c.3G>A
1 paper
NM_021902.4
p.A2insFs
c.4_5insT
1 paper
NM_021902.4
p.S3delFs
c.8delC
1 paper
NM_021902.4
p.L8M
c.22T>A
1 paper
NM_021902.4
p.V9I
c.25G>A
1 paper
NM_021902.4
p.F10S
c.29T>C
1 paper
NM_021902.4
p.G13S
c.37G>A
1 paper
NM_021902.4
p.L14L
c.42C>A
1 paper
NM_021902.4
p.L15R
c.44T>G
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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."