Varaico: Literature-Extracted Genetic Variants

Gene:FXYD1
Variant:p.S57Splc

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
Selected Variant
1 paper
NM_021902.4
p.S57Splc
c.169+127G>T
Surrounding Variants
1 paper
NM_021902.4
p.S57Splc
c.169+48A>G
1 paper
NM_021902.4
p.S57Splc
c.169+2T>C
1 paper
NM_021902.4
p.L56delFs
c.167delT
1 paper
NM_021902.4
p.G40A
c.119G>C
1 paper
NM_021902.4
p.G40R
c.118G>C
1 paper
NM_021902.4
p.I38N
c.113T>A
1 paper
NM_021902.4
p.Q37insFs
c.109_110ins5
1 paper
NM_021902.4
p.K63*
c.187A>T
1 paper
NM_021902.4
p.R69W
c.205A>T
1 paper
NM_021902.4
p.T30S
c.89C>G
2 papers
NM_021902.4
p.G71R
c.211G>A
2 papers
NM_021902.4
p.G71R
c.211G>C
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."