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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNAB1

Variant:p.V263I

KCNAB1

61 papers

RefSeq Summary

Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, ...

Pfam Domains

Aldo_ket_redaa 103–408UCSCAldo/keto reductase family

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily A regulatory beta subunit 1

HGNC Alias Symbols

AKR6A3; KCNA1B; hKvBeta3; Kvb1.3; hKvb3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr3:156515142 G>A

NM_172160.3

p.V263I

c.787G>A

Aldo_ket_red

exact variant not in gnomAD66 overlapping SVs

Surrounding Variants

1 paper

chr3:156515178 G>C

NM_172160.3

p.E275Q

c.823G>C

Aldo_ket_red

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=1, hom=0)66 overlapping SVs

1 paper

chr3:156515104 C>G

NM_172160.3

p.A250G

c.749C>G

Aldo_ket_red

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=3, hom=0)66 overlapping SVs

1 paper

chr3:156514373 G>A

NM_172160.3

p.R223Q

c.668G>A

Aldo_ket_red

Exome: 0.0% (AC=6, hom=0)Genome: n/a66 overlapping SVs

1 paper

chr3:156516319 A>G

NM_172160.3

p.G305G

c.915A>G

Aldo_ket_red

Exome: 0.3% (AC=4204, hom=73)Genome: 0.3% (AC=401, hom=9)67 overlapping SVs

1 paper

chr3:156523887 C>A

NM_172160.3

p.L341I

c.1021C>A

Aldo_ket_red

exact variant not in gnomAD66 overlapping SVs

1 paper

chr3:156523914 C>T

NM_172160.3

p.R350C

c.1048C>T

Aldo_ket_red

Exome: 0.0% (AC=16, hom=0)Genome: 0.0% (AC=1, hom=0)66 overlapping SVs

2 papers

chr3:156523915 G>A

NM_172160.3

p.R350H

c.1049G>A

Aldo_ket_red

Exome: 0.0% (AC=54, hom=0)Genome: n/a66 overlapping SVs

1 paper

chr3:156523929 CTA>N

NM_172160.3

p.L355fs

c.1063_1064fs

Aldo_ket_red

exact variant not in gnomAD66 overlapping SVs

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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."