Varaico: Literature-Extracted Genetic Variants

FXYD3

16 papers

RefSeq Summary

This gene belongs to a small family of FXYD-domain containing regulators of Na+/K+ ATPases which share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD, and containing 7 in...

Pfam Domains

ATP1G1_PLM_MAT8aa 25–72UCSCATP1G1/PLM/MAT8 family

ATP1G1_PLM_MAT8aa 54–101UCSCATP1G1/PLM/MAT8 family

Gene Aliases

HGNC Name

FXYD domain containing ion transport regulator 3

HGNC Previous Symbol

PLML

Papers

RefSeq ID

Protein change

DNA change

1–12 of 21 variants

3 papers

NM_005971.4

p.G40S

c.118G>A

2 papers

NM_005971.4

p.K3R

c.8A>G

2 papers

NM_005971.4

p.K60R

c.179A>G

1 paper

NM_001136007.2

p.R45*

c.133C>T

1 paper

NM_005971.4

p.D19H

c.55G>C

1 paper

NM_005971.4

p.D19Y

c.55G>T

1 paper

NM_005971.4

p.N27S

c.80A>G

1 paper

NM_005971.4

p.L37L

c.111C>T

1 paper

NM_005971.4

p.Q38*

c.112C>T

1 paper

NM_005971.4

p.V39I

c.115G>A

1 paper

NM_005971.4

p.V39A

c.116T>C

1 paper

NM_005971.4

p.G40G

c.120C>A