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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRT8

Variant:p.Y25*

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

Selected Variant

1 paper

chr12:52904907 G>T

NM_002273.4

p.Y25*

c.75C>A

Keratin_2_head

exact variant not in gnomAD28 overlapping SVs

Surrounding Variants

1 paper

chr12:52904907 G>C

NM_002273.4

p.Y25*

c.75C>G

Keratin_2_head

exact variant not in gnomAD28 overlapping SVs

1 paper

chr12:52904905 G>C

NM_002273.4

p.T26R

c.77C>G

Keratin_2_head

exact variant not in gnomAD28 overlapping SVs

1 paper

chr12:52904904 C>T

NM_002273.4

p.T26T

c.78G>A

Keratin_2_head

Exome: 0.0% (AC=84, hom=0)Genome: 0.0% (AC=7, hom=0)28 overlapping SVs

1 paper

chr12:52904911 G>C

NM_002273.4

p.S24C

c.71C>G

Keratin_2_head

exact variant not in gnomAD28 overlapping SVs

1 paper

chr12:52904911 G>T

NM_002273.4

p.S24Y

c.71C>A

Keratin_2_head

Exome: 0.0% (AC=9, hom=0)Genome: n/a28 overlapping SVs

1 paper

chr12:52904912 A>C

NM_002273.4

p.S24A

c.70T>G

Keratin_2_head

exact variant not in gnomAD28 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

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

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

1 paper

chr12:52904888 G>T

NM_002273.4

p.R32S

c.94C>A

Keratin_2_head

exact variant not in gnomAD28 overlapping SVs

2 papers

chr12:52904927 C>T

NM_002273.4

p.A19T

c.55G>A

Keratin_2_head

exact variant not in gnomAD28 overlapping SVs

1 paper

chr12:52904884 A>C

NM_002273.4

p.I33S

c.98T>G

Keratin_2_head

exact variant not in gnomAD28 overlapping SVs

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