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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLIC6

CLIC6

55 papers

RefSeq Summary

This gene encodes a member of the chloride intracellular channel family of proteins. The gene is part of a large triplicated region found on chromosomes 1, 6, and 21. Alternative splicing results in m...

Pfam Domains

CLIC-like_Naa 469–554UCSCCLIC-like N-terminal domain

Gene Aliases

HGNC Name

chloride intracellular channel 6

HGNC Previous Symbol

CLIC1L

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 59 variants

4 papers

chr21:34670163 G>A

NM_053277.3

p.G259S

c.775G>A

Exome: 0.0% (AC=59, hom=1)Genome: 0.0% (AC=3, hom=0)9 overlapping SVs

4 papers

chr21:34670163 GGCGTAGAAGCGGGGGTCCCGGCGGGGGACA>G

NM_053277.3

p.G259_S269del0

c.776_805del30

Exome: 21.6% (AC=261802, hom=31442)Genome: 18.3% (AC=25564, hom=2655)9 overlapping SVs

3 papers

chr21:34670280 C>G

NM_053277.3

p.Q298E

c.892C>G

Exome: 22.5% (AC=290234, hom=33513)Genome: 21.9% (AC=33237, hom=3769)7 overlapping SVs

2 papers

chr21:34669890 G>A

NM_053277.3

p.D168N

c.502G>A

Exome: 0.2% (AC=2259, hom=34)Genome: 0.3% (AC=504, hom=7)10 overlapping SVs

2 papers

chr21:34670019 C>G

NM_053277.3

p.Q211E

c.631C>G

Exome: 0.0% (AC=49, hom=0)Genome: 0.0% (AC=29, hom=0)9 overlapping SVs

2 papers

chr21:34670149 A>G

NM_053277.3

p.D254G

c.761A>G

Exome: 0.0% (AC=142, hom=1)Genome: 0.5% (AC=143, hom=0)10 overlapping SVs

2 papers

chr21:34670179 T>A

NM_053277.3

p.V264D

c.791T>A

Exome: 0.0% (AC=164, hom=2)Genome: 0.1% (AC=19, hom=0)7 overlapping SVs

1 paper

chr21:34669390 T>A

NM_053277.3

p.M1K

c.2T>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a8 overlapping SVs

1 paper

chr21:34669456 C>T

NM_053277.3

p.P23L

c.68C>T

Exome: 0.0% (AC=25, hom=0)Genome: 0.0% (AC=6, hom=0)8 overlapping SVs

1 paper

chr21:34669467 A>T

NM_053277.3

p.R27*

c.79A>T

exact variant not in gnomAD8 overlapping SVs

1 paper

chr21:34669546 G>T

NM_053277.3

p.G53V

c.158G>T

Exome: 0.1% (AC=1328, hom=2)Genome: 0.1% (AC=114, hom=1)8 overlapping SVs

1 paper

chr21:34669623 G>A

NM_053277.3

p.A79T

c.235G>A

Exome: 0.0% (AC=24, hom=0)Genome: 0.0% (AC=2, hom=0)9 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."