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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRTAP2-4

KRTAP2-4

8 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_B2aa 1–73UCSCKeratin, high sulfur B2 protein

Gene Aliases

HGNC Name

keratin associated protein 2-4

HGNC Alias Symbol

KAP2.4

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr17:41065564 C>T

NM_033184.4

p.W94*

c.282G>A

Exome: 1.2% (AC=14811, hom=1)Genome: 0.3% (AC=415, hom=0)16 overlapping SVs

1 paper

chr17:41065751 CGGCAGCAGCA>C

NM_033184.4

p.P28_C31delFs

c.83_92del10

Keratin_B2

exact variant not in gnomAD17 overlapping SVs

1 paper

chr17:41065628 C>T

NM_033184.4

p.C73Y

c.218G>A

Keratin_B2

Exome: 0.0% (AC=478, hom=2)Genome: 0.1% (AC=76, hom=0)17 overlapping SVs

1 paper

chr17:41065570 GCAGGGCCTGCACACCACAGCCGTGCAC>G

NM_033184.4

p.S83_C92del0

c.249_275del27

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=19, hom=0)17 overlapping SVs

1 paper

chr17:41065568 CAGCAGGGCCTGCACACCACAGCCGTGCACG>C

NM_033184.4

p.S83_C92del10

c.247_275del30

exact variant not in gnomAD16 overlapping SVs

1 paper

chr17:41065565 C>T

NM_033184.4

p.W94*

c.281G>A

exact variant not in gnomAD16 overlapping SVs

1 paper

chr17:41065517 C>G

NM_033184.4

p.R110P

c.329G>C

exact variant not in gnomAD15 overlapping SVs

1 paper

chr17:41065499 G>A

NM_033184.4

p.P116L

c.347C>T

Exome: 0.0% (AC=2, hom=0)Genome: n/a15 overlapping SVs

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