Varaico: Literature-Extracted Genetic Variants

Gene:FXYD2
Variant:p.R48K

FXYD2

52 papers

RefSeq Summary

This gene encodes a member of the FXYD family of transmembrane proteins. This particular protein encodes the sodium/potassium-transporting ATPase subunit gamma. Mutations in this gene have been associ...

Pfam Domains

ATP1G1_PLM_MAT8aa 14–61UCSCATP1G1/PLM/MAT8 family

Gene Aliases

HGNC Name

FXYD domain containing ion transport regulator 2

HGNC Previous Symbols

ATP1G1; HOMG2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001680.5
p.R48K
c.143G>A
Surrounding Variants
2 papers
NM_001680.5
p.R51H
c.152G>A
1 paper
NM_001680.5
p.C52S
c.154T>A
1 paper
NM_001680.5
p.C52S
c.155G>C
1 paper
NM_001680.5
p.R58C
c.172C>T
1 paper
NM_001680.5
p.S47Splc
c.139+390C>G
1 paper
NM_001680.5
p.G41G
c.123G>A
36 papers
NM_001680.5
p.G41R
c.121G>C
36 papers
NM_001680.5
p.G41R
c.121G>A
NM_021603.4
p.G39R
c.115G>A
1 paper
NM_001680.5
p.G35R
c.103G>C
1 paper
NM_001680.5
p.G35R
c.103G>A
1 paper
NM_001680.5
p.G29A
c.86G>C
1 paper
NM_001680.5
p.G29W
c.85G>T
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