Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNE1

Variant:p.A8V

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

Selected Variant

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

Surrounding Variants

1 paper

chr21:34449612 G>C

NM_000219.6

p.A8G

c.23C>G

ISK_Channel

exact variant not in gnomAD7 overlapping SVs

2 papers

chr21:34449612 G>T

NM_000219.6

p.A8E

c.23C>A

ISK_Channel

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

1 paper

chr21:34449611 C>A

NM_000219.6

p.A8A

c.24G>T

ISK_Channel

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

1 paper

chr21:34449613 C>A

NM_000219.6

p.A8S

c.22G>T

ISK_Channel

exact variant not in gnomAD7 overlapping SVs

1 paper

chr21:34449611 C>G

NM_000219.6

p.A8A

c.24G>C

ISK_Channel

exact variant not in gnomAD7 overlapping SVs

2 papers

chr21:34449611 C>T

NM_000219.6

p.A8A

c.24G>A

ISK_Channel

Exome: 0.0% (AC=69, hom=2)Genome: 0.0% (AC=9, hom=1)7 overlapping SVs

1 paper

chr21:34449613 C>T

NM_000219.6

p.A8T

c.22G>A

ISK_Channel

exact variant not in gnomAD7 overlapping SVs

1 paper

chr21:34449610 C>A

NM_000219.6

p.V9L

c.25G>T

ISK_Channel

exact variant not in gnomAD7 overlapping SVs

1 paper

chr21:34449610 C>G

NM_000219.6

p.V9L

c.25G>C

ISK_Channel

exact variant not in gnomAD7 overlapping SVs

1 paper

chr21:34449610 C>T

NM_000219.6

p.V9M

c.25G>A

ISK_Channel

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=2, hom=1)7 overlapping SVs

1 paper

chr21:34449614 T>A

NM_000219.6

p.T7T

c.21A>T

ISK_Channel

exact variant not in gnomAD7 overlapping SVs

1 paper

chr21:34449614 T>C

NM_000219.6

p.T7T

c.21A>G

ISK_Channel

Exome: 0.0% (AC=0, hom=0)Genome: n/a7 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."