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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NKAIN4

Variant:p.A131D

NKAIN4

19 papers

RefSeq Summary

NKAIN4 is a member of a family of mammalian proteins (see NKAIN1; MIM 612871) with similarity to Drosophila Nkain and interacts with the beta subunit of Na,K-ATPase (ATP1B1; MIM 182330) (Gorokhova et ...

Pfam Domains

NKAINaa 1–117UCSCNa,K-Atpase Interacting protein

Gene Aliases

HGNC Name

sodium/potassium transporting ATPase interacting 4

HGNC Previous Symbol

C20orf58

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr20:63247657 G>T

NM_152864.4

p.A131D

c.392C>A

NKAIN

Exome: 16.9% (AC=235425, hom=20860)Genome: 16.8% (AC=25606, hom=2302)7 overlapping SVs

Surrounding Variants

1 paper

chr20:63247673 C>G

NM_152864.4

p.A126P

c.376G>C

NKAIN

Exome: 0.0% (AC=5, hom=0)Genome: n/a7 overlapping SVs

1 paper

chr20:63247702 T>C

NM_152864.4

p.H116R

c.347A>G

NKAIN

exact variant not in gnomAD7 overlapping SVs

1 paper

chr20:63247582 A>T

NM_152864.4

p.I156N

c.467T>A

NKAIN

exact variant not in gnomAD7 overlapping SVs

1 paper

chr20:63247732 C>T

NM_152864.4

p.W106*

c.317G>A

NKAIN

Exome: 0.0% (AC=26, hom=0)Genome: 0.0% (AC=1, hom=0)7 overlapping SVs

1 paper

chr20:63247756 A>G

NM_152864.4

p.F98S

c.293T>C

NKAIN

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=1, hom=0)7 overlapping SVs

2 papers

chr20:63248817 T>G

NM_152864.4

p.K91Q

c.271A>C

NKAIN

Exome: 38.9% (AC=565525, hom=111959)Genome: 39.3% (AC=59654, hom=11809)7 overlapping SVs

1 paper

chr20:63248826 C>A

NM_152864.4

p.G88C

c.262G>T

NKAIN

Exome: 0.0% (AC=89, hom=0)Genome: 0.0% (AC=6, hom=0)7 overlapping SVs

1 paper

chr20:63248859 C>T

NM_152864.4

p.V77I

c.229G>A

NKAIN

Exome: 0.0% (AC=38, hom=0)Genome: 0.0% (AC=2, hom=0)7 overlapping SVs

1 paper

chr20:63249944 A>G

NM_152864.4

p.Y61Y

c.183T>C

NKAIN

Exome: 57.2% (AC=834973, hom=241914)Genome: 59.7% (AC=90741, hom=27306)6 overlapping SVs

1 paper

chr20:63250000 G>A

NM_152864.4

p.H43Y

c.127C>T

NKAIN

Exome: 0.0% (AC=190, hom=2)Genome: 0.0% (AC=10, hom=0)6 overlapping SVs

1 paper

chr20:63244039 C>T

NM_152864.4

p.E173K

c.517G>A

NKAIN

exact variant not in gnomAD7 overlapping SVs

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