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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRTAP9-4

Variant:p.V44V

KRTAP9-4

20 papers

RefSeq Summary

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family m...

Pfam Domains

Keratin_B2_2aa 23–65UCSCKeratin, high sulfur B2 protein

Keratin_B2_2aa 65–109UCSCKeratin, high sulfur B2 protein

Gene Aliases

HGNC Name

keratin associated protein 9-4

HGNC Alias Symbol

KAP9.4

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr17:41249852 T>G

NM_033191.3

p.V44V

c.132T>G

Keratin_B2_2

Exome: 62.6% (AC=855270, hom=224987)Genome: 68.6% (AC=104096, hom=36521)19 overlapping SVs

Surrounding Variants

1 paper

chr17:41249841 T>G

NM_033191.3

p.S41A

c.121T>G

Keratin_B2_2

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=4, hom=0)18 overlapping SVs

1 paper

chr17:41249871 T>A

NM_033191.3

p.C51S

c.151T>A

Keratin_B2_2

exact variant not in gnomAD19 overlapping SVs

1 paper

chr17:41249874 T>C

NM_033191.3

p.C52R

c.154T>C

Keratin_B2_2

exact variant not in gnomAD19 overlapping SVs

1 paper

chr17:41249826 C>CNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN

NM_033191.3

p.P36_C37ins15

c.106_110ins45

Keratin_B2_2

exact variant not in gnomAD18 overlapping SVs

2 papers

chr17:41249826 C>T

NM_033191.3

p.P36S

c.106C>T

Keratin_B2_2

Exome: 0.0% (AC=111, hom=0)Genome: 0.0% (AC=4, hom=0)18 overlapping SVs

1 paper

chr17:41249878 G>A

NM_033191.3

p.R53H

c.158G>A

Keratin_B2_2

Exome: 0.0% (AC=168, hom=0)Genome: 0.0% (AC=22, hom=0)19 overlapping SVs

1 paper

chr17:41249797 C>A

NM_033191.3

p.P26H

c.77C>A

Keratin_B2_2

exact variant not in gnomAD18 overlapping SVs

2 papers

chr17:41249914 C>T

NM_033191.3

p.T65I

c.194C>T

Keratin_B2_2

Exome: 0.1% (AC=1339, hom=0)Genome: 0.2% (AC=228, hom=0)18 overlapping SVs

1 paper

chr17:41249756 A>ATGCTGCAGGACCACC

NM_033191.3

p.T12_C13ins5

c.36_37ins15

Exome: 0.0% (AC=321, hom=1)Genome: 0.0% (AC=23, hom=0)18 overlapping SVs

1 paper

chr17:41249962 G>A

NM_033191.3

p.C81Y

c.242G>A

Keratin_B2_2

Exome: n/aGenome: 0.0% (AC=1, hom=0)18 overlapping SVs

1 paper

chr17:41249979 G>T

NM_033191.3

p.G87W

c.259G>T

Keratin_B2_2

Exome: 0.5% (AC=7313, hom=26)Genome: 0.4% (AC=546, hom=3)18 overlapping SVs

4 papers

chr17:41250039 T>C

NM_033191.3

p.Y107H

c.319T>C

Keratin_B2_2

Exome: 0.0% (AC=60, hom=0)Genome: 0.0% (AC=70, hom=0)18 overlapping SVs

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