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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRT8

Variant:p.Y54C

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

chr12:52904821 T>C

NM_002273.4

p.Y54C

c.161A>G

Keratin_2_head

exact variant not in gnomAD28 overlapping SVs

Surrounding Variants

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

1 paper

chr12:52904823 G>A

NM_002273.4

p.G53G

c.159C>T

Keratin_2_head

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)28 overlapping SVs

3 papers

chr12:52904824 C>A

NM_002273.4

p.G53V

c.158G>T

Keratin_2_head

Exome: 0.0% (AC=33, hom=0)Genome: 0.0% (AC=7, hom=0)28 overlapping SVs

1 paper

chr12:52904818 C>G

NM_002273.4

p.G55A

c.164G>C

Keratin_2_head

Exome: 0.0% (AC=54, hom=0)Genome: 0.0% (AC=4, hom=0)28 overlapping SVs

1 paper

chr12:52904824 C>T

NM_002273.4

p.G53D

c.158G>A

Keratin_2_head

Exome: 0.0% (AC=3, hom=0)Genome: n/a28 overlapping SVs

3 papers

chr12:52904827 C>A

NM_002273.4

p.G52V

c.155G>T

Keratin_2_head

exact variant not in gnomAD28 overlapping SVs

1 paper

chr12:52904827 C>G

NM_002273.4

p.G52A

c.155G>C

Keratin_2_head

exact variant not in gnomAD28 overlapping SVs

1 paper

chr12:52904815 C>T

NM_002273.4

p.G56E

c.167G>A

Keratin_2_head

Exome: 0.0% (AC=1, hom=0)Genome: n/a28 overlapping SVs

1 paper

chr12:52904831 C>G

NM_002273.4

p.G51R

c.151G>C

Keratin_2_head

exact variant not in gnomAD28 overlapping SVs

1 paper

chr12:52904809 C>T

NM_002273.4

p.S58N

c.173G>A

Keratin_2_head

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=4, hom=0)28 overlapping SVs

1 paper

chr12:52904806 C>G

NM_002273.4

p.G59A

c.176G>C

Keratin_2_head

exact variant not in gnomAD28 overlapping SVs

1 paper

chr12:52904800 C>T

NM_002273.4

p.G61E

c.182G>A

Keratin_2_head

Exome: 0.0% (AC=1, hom=0)Genome: n/a28 overlapping SVs

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