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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNE3

KCNE3

164 papers

RefSeq Summary

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotr...

Pfam Domains

ISK_Channelaa 18–101UCSCSlow voltage-gated potassium channel

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily E regulatory subunit 3

HGNC Alias Symbols

MiRP2; HOKPP

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 83 variants

51 papers

chr11:74457316 C>T

NM_005472.5

p.R83H

c.248G>A

ISK_Channel

Exome: 0.5% (AC=7112, hom=31)Genome: 0.4% (AC=580, hom=2)32 overlapping SVs

27 papers

chr11:74457268 C>T

NM_005472.5

p.R99H

c.296G>A

ISK_Channel

Exome: 0.0% (AC=308, hom=0)Genome: 0.0% (AC=14, hom=0)32 overlapping SVs

15 papers

chr11:74457554 T>C

NM_005472.5

p.T4A

c.10A>G

Exome: 0.0% (AC=78, hom=0)Genome: 0.0% (AC=8, hom=0)32 overlapping SVs

12 papers

chr11:74457515 C>T

NM_005472.5

p.V17M

c.49G>A

Exome: 0.0% (AC=36, hom=1)Genome: 0.0% (AC=4, hom=0)32 overlapping SVs

9 papers

chr11:74457366 A>G

NM_005472.5

p.F66F

c.198T>C

ISK_Channel

Exome: 12.0% (AC=175488, hom=11444)Genome: 12.5% (AC=18976, hom=1316)32 overlapping SVs

8 papers

chr11:74457406 C>T

NM_005472.5

p.R53H

c.158G>A

ISK_Channel

Exome: 0.0% (AC=57, hom=0)Genome: 0.0% (AC=11, hom=0)32 overlapping SVs

4 papers

chr11:74457323 G>A

NM_005472.5

p.R81C

c.241C>T

ISK_Channel

Exome: 0.0% (AC=28, hom=0)Genome: 0.0% (AC=8, hom=0)32 overlapping SVs

4 papers

chr11:74457296 C>T

NM_005472.5

p.D90N

c.268G>A

ISK_Channel

exact variant not in gnomAD32 overlapping SVs

2 papers

chr11:74457562 A>G

NM_005472.5

p.M1T

c.2T>C

Exome: 0.0% (AC=24, hom=0)Genome: 0.0% (AC=5, hom=0)32 overlapping SVs

2 papers

chr11:74457524 G>T

NM_005472.5

p.L14M

c.40C>A

Exome: 0.0% (AC=25, hom=1)Genome: n/a32 overlapping SVs

2 papers

chr11:74457520 T>G

NM_005472.5

p.H15P

c.44A>C

exact variant not in gnomAD32 overlapping SVs

2 papers

chr11:74457518 C>T

NM_005472.5

p.A16T

c.46G>A

Exome: 0.0% (AC=25, hom=1)Genome: n/a32 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."