Varaico: Literature-Extracted Genetic Variants

Gene:FXYD1
Variant:p.G71R

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
2 papers
NM_021902.4
p.G71R
c.211G>C
Surrounding Variants
2 papers
NM_021902.4
p.G71R
c.211G>A
1 paper
NM_021902.4
p.P73T
c.217C>A
1 paper
NM_021902.4
p.S82insFs
c.244_245insT
1 paper
NM_021902.4
p.S83F
c.248C>T
1 paper
NM_021902.4
p.R86C
c.256C>T
1 paper
NM_021902.4
p.R86Splc
c.257-1G>C
1 paper
NM_021902.4
p.R90C
c.268C>T
1 paper
NM_021902.4
p.R69W
c.205A>T
1 paper
NM_021902.4
p.K63*
c.187A>T
1 paper
NM_021902.4
p.S57Splc
c.169+127G>T
1 paper
NM_021902.4
p.S57Splc
c.169+48A>G
1 paper
NM_021902.4
p.S57Splc
c.169+2T>C
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