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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRT6A

Variant:p.T139T

KRT6A

225 papers

RefSeq Summary

The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpre...

Pfam Domains

Keratin_2_headaa 17–159UCSCKeratin type II head

Filamentaa 162–475UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 6A

HGNC Previous Symbol

KRT6D

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr12:52492772 G>A

NM_005554.4

p.T139T

c.417C>T

Keratin_2_head

Exome: 0.0% (AC=240, hom=1)Genome: 0.0% (AC=22, hom=0)26 overlapping SVs

Surrounding Variants

1 paper

chr12:52492771 C>T

NM_005554.4

p.V140I

c.418G>A

Keratin_2_head

Exome: 0.0% (AC=76, hom=0)Genome: 0.0% (AC=8, hom=0)26 overlapping SVs

1 paper

chr12:52492779 T>G

NM_005554.4

p.E137A

c.410A>C

Keratin_2_head

exact variant not in gnomAD26 overlapping SVs

1 paper

chr12:52492763 C>G

NM_005554.4

p.Q142H

c.426G>C

Keratin_2_head

Exome: 0.0% (AC=1, hom=0)Genome: n/a26 overlapping SVs

3 papers

chr12:52492761 C>T

NM_005554.4

p.S143N

c.428G>A

Keratin_2_head

Exome: 0.0% (AC=4, hom=0)Genome: n/a26 overlapping SVs

1 paper

chr12:52492750 G>A

NM_005554.4

p.P147S

c.439C>T

Keratin_2_head

Exome: 0.0% (AC=35, hom=0)Genome: 0.0% (AC=1, hom=0)26 overlapping SVs

1 paper

chr12:52492794 G>T

NM_005554.4

p.P132H

c.395C>A

Keratin_2_head

exact variant not in gnomAD26 overlapping SVs

1 paper

chr12:52492746 A>G

NM_005554.4

p.L148P

c.443T>C

Keratin_2_head

exact variant not in gnomAD26 overlapping SVs

1 paper

chr12:52492742 G>A

NM_005554.4

p.N149N

c.447C>T

Keratin_2_head

Exome: 0.0% (AC=8, hom=0)Genome: n/a26 overlapping SVs

1 paper

chr12:52492733 G>A

NM_005554.4

p.I152I

c.456C>T

Keratin_2_head

Exome: 0.0% (AC=57, hom=0)Genome: 0.0% (AC=5, hom=0)26 overlapping SVs

1 paper

chr12:52492814 A>G

NM_005554.4

p.P125P

c.375T>C

Keratin_2_head

Exome: 0.2% (AC=2548, hom=3)Genome: 0.1% (AC=207, hom=0)26 overlapping SVs

1 paper

chr12:52492729 G>A

NM_005554.4

p.P154S

c.460C>T

Keratin_2_head

Exome: 0.1% (AC=1543, hom=18)Genome: 1.0% (AC=1511, hom=18)26 overlapping SVs

1 paper

chr12:52492729 G>C

NM_005554.4

p.P154A

c.460C>G

Keratin_2_head

Exome: 0.4% (AC=5941, hom=18)Genome: 0.3% (AC=426, hom=0)26 overlapping SVs

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