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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNE1

Variant:p.L3fs

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

2 papers

chr21:34449626 C>CN

NM_000219.6

p.L3fs

c.7_8fs

ISK_Channel

exact variant not in gnomAD7 overlapping SVs

Surrounding Variants

1 paper

chr21:34449626 C>A

NM_000219.6

p.L3L

c.9G>T

ISK_Channel

exact variant not in gnomAD7 overlapping SVs

1 paper

chr21:34449626 C>G

NM_000219.6

p.L3L

c.9G>C

ISK_Channel

exact variant not in gnomAD7 overlapping SVs

1 paper

chr21:34449626 C>T

NM_000219.6

p.L3L

c.9G>A

ISK_Channel

Exome: 0.0% (AC=31, hom=2)Genome: 0.0% (AC=2, hom=0)7 overlapping SVs

1 paper

chr21:34449625 A>C

NM_000219.6

p.S4A

c.10T>G

ISK_Channel

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

1 paper

chr21:34449627 A>C

NM_000219.6

p.L3R

c.8T>G

ISK_Channel

exact variant not in gnomAD7 overlapping SVs

2 papers

chr21:34449627 A>G

NM_000219.6

p.L3P

c.8T>C

ISK_Channel

Exome: 0.0% (AC=41, hom=0)Genome: 0.0% (AC=1, hom=0)7 overlapping SVs

1 paper

chr21:34449625 A>G

NM_000219.6

p.S4P

c.10T>C

ISK_Channel

exact variant not in gnomAD7 overlapping SVs

7 papers

chr21:34449627 A>T

NM_000219.6

p.L3Q

c.8T>A

ISK_Channel

exact variant not in gnomAD7 overlapping SVs

1 paper

chr21:34449625 A>T

NM_000219.6

p.S4T

c.10T>A

ISK_Channel

exact variant not in gnomAD7 overlapping SVs

1 paper

chr21:34449624 G>A

NM_000219.6

p.S4F

c.11C>T

ISK_Channel

exact variant not in gnomAD7 overlapping SVs

1 paper

chr21:34449628 G>A

NM_000219.6

p.L3L

c.7C>T

ISK_Channel

exact variant not in gnomAD7 overlapping SVs

1 paper

chr21:34449624 G>C

NM_000219.6

p.S4C

c.11C>G

ISK_Channel

exact variant not in gnomAD7 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."