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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRTAP3-3

Variant:p.Q72*

KRTAP3-3

9 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_matxaa 3–98UCSCKeratin, high-sulphur matrix protein

Gene Aliases

HGNC Name

keratin associated protein 3-3

HGNC Alias Symbol

KAP3.3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr17:40993884 G>A

NM_033185.3

p.Q72*

c.214C>T

Keratin_matx

Exome: 0.0% (AC=14, hom=0)Genome: n/a12 overlapping SVs

Surrounding Variants

1 paper

chr17:40993827 C>T

NM_033185.3

p.E91K

c.271G>A

Keratin_matx

exact variant not in gnomAD12 overlapping SVs

2 papers

chr17:40993802 T>C

NM_033185.3

p.*99*

c.296A>G

Exome: 0.0% (AC=537, hom=0)Genome: 0.0% (AC=23, hom=0)12 overlapping SVs

1 paper

chr17:40993982 G>C

NM_033185.3

p.T39R

c.116C>G

Keratin_matx

Exome: 0.0% (AC=0, hom=0)Genome: n/a13 overlapping SVs

1 paper

chr17:40994078 C>T

NM_033185.3

p.R7Q

c.20G>A

Keratin_matx

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=2, hom=0)13 overlapping SVs

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