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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNC3

Variant:p.L2P

KCNC3

201 papers

RefSeq Summary

The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these sub...

Pfam Domains

BTB_2aa 90–184UCSCBTB/POZ domain

Ion_transaa 289–550UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily C member 3

HGNC Previous Symbol

SCA13

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr19:50329078 A>G

NM_004977.3

p.L2P

c.5T>C

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)10 overlapping SVs

Surrounding Variants

1 paper

chr19:50329077 C>G

NM_004977.3

p.L2L

c.6G>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr19:50329080 C>A

NM_004977.3

p.M1I

c.3G>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr19:50329080 C>G

NM_004977.3

p.M1I

c.3G>C

exact variant not in gnomAD10 overlapping SVs

1 paper

chr19:50329080 C>T

NM_004977.3

p.M1I

c.3G>A

Exome: 0.0% (AC=5, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr19:50329075 C>T

NM_004977.3

p.S3N

c.8G>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr19:50329082 T>C

NM_004977.3

p.M1V

c.1A>G

Exome: 0.0% (AC=0, hom=0)Genome: 0.0% (AC=1, hom=0)10 overlapping SVs

1 paper

chr19:50329065 G>A

NM_004977.3

p.C6C

c.18C>T

Exome: 0.0% (AC=105, hom=0)Genome: 0.0% (AC=28, hom=0)10 overlapping SVs

1 paper

chr19:50329059 C>A

NM_004977.3

p.S8S

c.24G>T

Exome: 0.0% (AC=359, hom=0)Genome: 0.0% (AC=31, hom=0)10 overlapping SVs

1 paper

chr19:50329046 G>T

NM_004977.3

p.R13S

c.37C>A

Exome: 0.0% (AC=2, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr19:50329037 C>T

NM_004977.3

p.A16T

c.46G>A

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=1, hom=0)10 overlapping SVs

1 paper

chr19:50329036 G>C

NM_004977.3

p.A16G

c.47C>G

Exome: 0.0% (AC=0, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr19:50329030 T>C

NM_004977.3

p.K18R

c.53A>G

Exome: 0.0% (AC=1, hom=0)Genome: n/a10 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."