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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRTAP9-4

Variant:p.T109T

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

chr17:41250047 A>G

NM_033191.3

p.T109T

c.327A>G

Keratin_B2_2

Exome: 0.1% (AC=1315, hom=0)Genome: 0.2% (AC=274, hom=0)18 overlapping SVs

Surrounding Variants

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

1 paper

chr17:41250087 T>TC

NM_033191.3

p.S123insFs

c.369dupC

exact variant not in gnomAD18 overlapping SVs

1 paper

chr17:41250090 A>AN

NM_033191.3

p.N124fs

c.370_371fs

exact variant not in gnomAD18 overlapping SVs

1 paper

chr17:41250091 A>G

NM_033191.3

p.N124S

c.371A>G

Exome: 3.0% (AC=36046, hom=0)Genome: 5.9% (AC=7256, 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

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

chr17:41250157 C>A

NM_033191.3

p.S146Y

c.437C>A

Exome: 73.6% (AC=1076244, hom=398274)Genome: 68.6% (AC=104337, hom=36624)18 overlapping SVs

2 papers

chr17:41250163 G>T

NM_033191.3

p.C148F

c.443G>T

Exome: 0.0% (AC=486, hom=0)Genome: 0.0% (AC=25, hom=0)18 overlapping SVs

1 paper

chr17:41250175 T>C

NM_033191.3

p.F152S

c.455T>C

Exome: 5.0% (AC=62516, hom=0)Genome: 5.5% (AC=6877, hom=0)18 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

chr17:41249878 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

chr17:41249874 T>C

NM_033191.3

p.C52R

c.154T>C

Keratin_B2_2

exact variant not in gnomAD19 overlapping SVs

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