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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRT6B

KRT6B

146 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 6B

HGNC Previous Symbol

KRTL1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 101 variants

13 papers

chr12:52447788 C>T

NM_005555.4

p.E472K

c.1414G>A

Filament

exact variant not in gnomAD30 overlapping SVs

6 papers

chr12:52452017 T>C

NM_005555.4

p.N21S

c.62A>G

Keratin_2_head

Exome: 47.6% (AC=690440, hom=91812)Genome: 47.6% (AC=68484, hom=9868)31 overlapping SVs

6 papers

chr12:52448952 T>C

NM_005555.4

p.I365V

c.1093A>G

Filament

Exome: 48.3% (AC=624040, hom=175015)Genome: 48.6% (AC=73550, hom=18187)29 overlapping SVs

5 papers

chr12:52451651 C>T

NM_005555.4

p.S143N

c.428G>A

Keratin_2_head

Exome: 18.7% (AC=256765, hom=26)Genome: 18.4% (AC=23367, hom=0)31 overlapping SVs

5 papers

chr12:52448859 C>T

NM_005555.4

p.D396N

c.1186G>A

Filament

Exome: 0.5% (AC=7345, hom=34)Genome: 0.5% (AC=718, hom=1)29 overlapping SVs

5 papers

chr12:52447821 C>T

NM_005555.4

p.E461K

c.1381G>A

Filament

exact variant not in gnomAD30 overlapping SVs

4 papers

chr12:52451790 C>G

NM_005555.4

p.G97R

c.289G>C

Keratin_2_head

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=2, hom=0)31 overlapping SVs

4 papers

chr12:52451790 C>T

NM_005555.4

p.G97R

c.289G>A

Keratin_2_head

Exome: 18.8% (AC=273456, hom=7)Genome: 18.0% (AC=26933, hom=30)31 overlapping SVs

4 papers

chr12:52451747 C>T

NM_005555.4

p.G111D

c.332G>A

Keratin_2_head

Exome: 24.0% (AC=291035, hom=0)Genome: 17.9% (AC=23893, hom=0)31 overlapping SVs

4 papers

chr12:52450481 T>C

NM_005555.4

p.N227S

c.680A>G

Filament

Exome: 28.9% (AC=423107, hom=2109)Genome: 29.8% (AC=45065, hom=1726)30 overlapping SVs

4 papers

chr12:52447390 C>T

NM_005555.4

p.G499S

c.1495G>A

Exome: 3.2% (AC=46089, hom=879)Genome: 2.5% (AC=3744, hom=64)30 overlapping SVs

3 papers

chr12:52451560 CTTG>C

NM_005555.4

p.N172del1

c.514_515delGTT

Filament

Exome: 0.0% (AC=3, hom=0)Genome: n/a31 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."