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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLCNKA

CLCNKA

239 papers

RefSeq Summary

This gene is a member of the CLC family of voltage-gated chloride channels. The encoded protein is predicted to have 12 transmembrane domains, and requires a beta subunit called barttin to form a func...

Pfam Domains

Voltage_CLCaa 101–513UCSCVoltage gated chloride channel

CBSaa 547–605UCSCCBS domain

Gene Aliases

HGNC Name

chloride voltage-gated channel Ka

HGNC Alias Symbols

hClC-Ka; ClC-K1; CLCK1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 316 variants

23 papers

chr1:16024780 A>G

NM_004070.4

p.R83G

c.247A>G

Exome: 55.9% (AC=816601, hom=230521)Genome: 59.2% (AC=89927, hom=27334)57 overlapping SVs

20 papers

chr1:16030006 G>A

NM_004070.4

p.A447T

c.1339G>A

Voltage_CLC

Exome: 55.3% (AC=795047, hom=226491)Genome: 59.3% (AC=90063, hom=27511)56 overlapping SVs

12 papers

chr1:16027899 C>T

NM_004070.4

p.A287V

c.860C>T

Voltage_CLC

Exome: 0.4% (AC=4935, hom=54)Genome: 1.1% (AC=1598, hom=28)55 overlapping SVs

10 papers

chr1:16028095 A>T

NM_004070.4

p.Y315F

c.944A>T

Voltage_CLC

Exome: 21.4% (AC=313050, hom=34885)Genome: 19.9% (AC=30288, hom=3369)55 overlapping SVs

8 papers

chr1:16026246 T>A

NM_004070.4

p.V166E

c.497T>A

Voltage_CLC

exact variant not in gnomAD55 overlapping SVs

8 papers

chr1:16029979 C>T

NM_004070.4

p.R438C

c.1312C>T

Voltage_CLC

Exome: 0.0% (AC=86, hom=0)Genome: 0.0% (AC=7, hom=0)56 overlapping SVs

7 papers

chr1:16026730 G>A

NM_004070.4

p.A204T

c.610G>A

Voltage_CLC

exact variant not in gnomAD55 overlapping SVs

7 papers

chr1:16027432 C>T

NM_004070.4

p.Q260*

c.778C>T

Voltage_CLC

Exome: 0.0% (AC=48, hom=1)Genome: 0.0% (AC=3, hom=0)55 overlapping SVs

6 papers

chr1:16023901 A>G

NM_004070.4

p.N68D

c.202A>G

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=2, hom=0)56 overlapping SVs

5 papers

chr1:16026120 C>T

NM_004070.4

p.P124L

c.371C>T

Voltage_CLC

Exome: 0.0% (AC=86, hom=0)Genome: 0.0% (AC=2, hom=0)55 overlapping SVs

5 papers

chr1:16027385 C>T

NM_004070.4

p.T244I

c.731C>T

Voltage_CLC

Exome: 0.0% (AC=1, hom=0)Genome: n/a55 overlapping SVs

5 papers

chr1:16029143 T>A

NM_004070.4

p.H357Q

c.1071T>A

Voltage_CLC

Exome: 6.7% (AC=98041, hom=3811)Genome: 6.1% (AC=9256, hom=340)55 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."