Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNAB1

Variant:p.L407L

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

chr3:156536708 G>C

NM_172160.3

p.L407L

c.1221G>C

Aldo_ket_red

exact variant not in gnomAD66 overlapping SVs

Surrounding Variants

1 paper

chr3:156531495 C>T

NM_172160.3

p.Q390*

c.1168C>T

Aldo_ket_red

exact variant not in gnomAD66 overlapping SVs

1 paper

chr3:156531471 C>A

NM_172160.3

p.L382I

c.1144C>A

Aldo_ket_red

exact variant not in gnomAD66 overlapping SVs

1 paper

chr3:156531438 T>A

NM_172160.3

p.S371T

c.1111T>A

Aldo_ket_red

exact variant not in gnomAD66 overlapping SVs

1 paper

chr3:156531425 T>C

NM_172160.3

p.N366N

c.1098T>C

Aldo_ket_red

Exome: 22.9% (AC=334137, hom=38966)Genome: 22.6% (AC=34400, hom=3935)66 overlapping SVs

2 papers

chr3:156531413 G>C

NM_172160.3

p.W362C

c.1086G>C

Aldo_ket_red

exact variant not in gnomAD66 overlapping SVs

1 paper

chr3:156531413 G>T

NM_172160.3

p.W362C

c.1086G>T

Aldo_ket_red

exact variant not in gnomAD66 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."