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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRT8

KRT8

241 papers

RefSeq Summary

This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of ep...

Pfam Domains

Keratin_2_headaa 3–87UCSCKeratin type II head

Filamentaa 90–401UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 8

HGNC Alias Symbols

CARD2; K8; CK8; CK-8; CYK8; K2C8; KO

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 164 variants

42 papers

chr12:52904798 C>A

NM_002273.4

p.G62C

c.184G>T

Keratin_2_head

Exome: 0.8% (AC=12373, hom=70)Genome: 0.5% (AC=788, hom=5)28 overlapping SVs

40 papers

chr12:52904920 C>G

NM_002273.4

p.S21T

c.62G>C

Keratin_2_head

Exome: 0.0% (AC=0, hom=0)Genome: n/a28 overlapping SVs

24 papers

chr12:52898859 C>T

NM_002273.4

p.R341H

c.1022G>A

Filament

Exome: 3.2% (AC=46599, hom=956)Genome: 2.4% (AC=3588, hom=74)31 overlapping SVs

21 papers

chr12:52904822 A>G

NM_002273.4

p.Y54H

c.160T>C

Keratin_2_head

Exome: 0.1% (AC=956, hom=9)Genome: 0.7% (AC=1001, hom=10)28 overlapping SVs

19 papers

chr12:52904891 A>C

NM_002273.4

p.S31A

c.91T>G

Keratin_2_head

Exome: 0.0% (AC=50, hom=0)Genome: n/a28 overlapping SVs

19 papers

chr12:52904795 T>C

NM_002273.4

p.I63V

c.187A>G

Keratin_2_head

Exome: 0.5% (AC=6773, hom=32)Genome: 0.3% (AC=484, hom=2)28 overlapping SVs

12 papers

chr12:52897580 C>T

NM_002273.4

p.G434S

c.1300G>A

Exome: 0.2% (AC=2718, hom=85)Genome: 1.7% (AC=2517, hom=71)31 overlapping SVs

9 papers

chr12:52899801 C>A

NM_002273.4

p.A319S

c.955G>T

Filament

Exome: 0.7% (AC=10263, hom=49)Genome: 0.4% (AC=599, hom=1)31 overlapping SVs

7 papers

chr12:52904915 G>A

NM_002273.4

p.R23C

c.67C>T

Keratin_2_head

Exome: 0.0% (AC=598, hom=0)Genome: 0.0% (AC=0, hom=0)28 overlapping SVs

7 papers

chr12:52898743 C>T

NM_002273.4

p.V380I

c.1138G>A

Filament

Exome: 0.1% (AC=1140, hom=9)Genome: 0.0% (AC=72, hom=1)31 overlapping SVs

5 papers

chr12:52898806 C>T

NM_002273.4

p.A359T

c.1075G>A

Filament

Exome: 0.0% (AC=133, hom=0)Genome: 0.0% (AC=38, hom=0)31 overlapping SVs

5 papers

chr12:52897442 C>T

NM_002273.4

p.V480I

c.1438G>A

Exome: 0.1% (AC=1921, hom=8)Genome: 0.6% (AC=867, hom=7)31 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."