Varaico: Literature-Extracted Genetic Variants

Gene:KCNAB1

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
RefSeq ID
Protein change
DNA change
1–12 of 42 variants
2 papers
NM_172160.3
p.T6K
c.17C>A
2 papers
NM_172160.3
p.R350H
c.1049G>A
2 papers
NM_172160.3
p.W362C
c.1086G>C
1 paper
NM_172160.3
p.A3P
c.7G>C
1 paper
NM_172160.3
p.A3V
c.8C>T
1 paper
NM_172160.3
p.G7W
c.19G>T
1 paper
NM_172160.3
p.G7E
c.20G>A
1 paper
NM_172160.3
p.A8V
c.23C>T
1 paper
NM_172160.3
p.G10W
c.28G>T
1 paper
NM_172160.3
p.S14*
c.41C>A
1 paper
NM_172160.3
p.S14*
c.41C>G
1 paper
NM_172160.3
p.T18S
c.52A>T
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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."