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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNE1

KCNE1

716 papers

RefSeq Summary

The product of this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree of diversity, varying in their electrophys...

Pfam Domains

ISK_Channelaa 1–126UCSCSlow voltage-gated potassium channel

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily E regulatory subunit 1

HGNC Alias Symbols

IsK; JLNS2; LQT5

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 953 variants

256 papers

chr21:34449382 C>T

NM_000219.6

p.D85N

c.253G>A

ISK_Channel

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

124 papers

chr21:34449409 C>T

NM_000219.6

p.D76N

c.226G>A

ISK_Channel

Exome: 0.0% (AC=187, hom=3)Genome: 0.0% (AC=8, hom=0)7 overlapping SVs

106 papers

chr21:34449523 T>C

NM_000219.6

p.S38G

c.112A>G

ISK_Channel

Exome: 0.1% (AC=584, hom=289)Genome: 0.0% (AC=15, hom=0)7 overlapping SVs

55 papers

chr21:34449414 G>A

NM_000219.6

p.S74L

c.221C>T

ISK_Channel

Exome: 0.0% (AC=11, hom=0)Genome: 0.0% (AC=2, hom=0)7 overlapping SVs

27 papers

chr21:34449343 G>A

NM_000219.6

p.R98W

c.292C>T

ISK_Channel

Exome: 0.0% (AC=68, hom=0)Genome: 0.0% (AC=1, hom=0)7 overlapping SVs

25 papers

chr21:34449481 C>G

NM_000219.6

p.G52R

c.154G>C

ISK_Channel

exact variant not in gnomAD7 overlapping SVs

25 papers

chr21:34449481 C>T

NM_000219.6

p.G52R

c.154G>A

ISK_Channel

Exome: 0.0% (AC=1, hom=0)Genome: n/a7 overlapping SVs

25 papers

chr21:34449376 A>G

NM_000219.6

p.W87R

c.259T>C

ISK_Channel

Exome: 0.0% (AC=1, hom=0)Genome: n/a7 overlapping SVs

25 papers

chr21:34449376 A>T

NM_000219.6

p.W87R

c.259T>A

ISK_Channel

exact variant not in gnomAD7 overlapping SVs

22 papers

chr21:34449435 C>T

NM_000219.6

p.R67H

c.200G>A

ISK_Channel

Exome: 0.0% (AC=115, hom=0)Genome: 0.0% (AC=24, hom=0)7 overlapping SVs

22 papers

chr21:34449310 C>T

NM_000219.6

p.V109I

c.325G>A

ISK_Channel

Exome: 0.0% (AC=75, hom=0)Genome: 0.0% (AC=16, hom=0)7 overlapping SVs

21 papers

chr21:34449612 G>A

NM_000219.6

p.A8V

c.23C>T

ISK_Channel

Exome: 0.0% (AC=81, hom=7)Genome: 0.0% (AC=9, hom=0)7 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."