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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRTAP1-4

KRTAP1-4

11 papers

RefSeq Summary

The main structural proteins of mammalian hair fiber are the hair keratins (see MIM 601077) and the keratin-associated proteins (KAPs), which form a rigid and resistant hair shaft through extensive di...

Pfam Domains

Keratin_B2aa 1–121UCSCKeratin, high sulfur B2 protein

Gene Aliases

HGNC Name

keratin associated protein 1-4

HGNC Alias Symbol

KAP1.4

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr17:41029784 G>A

NM_001257305.2

p.R99C

c.295C>T

Keratin_B2

Exome: 0.0% (AC=439, hom=6)Genome: 0.0% (AC=50, hom=2)13 overlapping SVs

1 paper

chr17:41030077 A>AT

NM_001257305.2

p.M1insFs

c.1dupA

Keratin_B2

exact variant not in gnomAD12 overlapping SVs

1 paper

chr17:41029894 C>T

NM_001257305.2

p.W62*

c.185G>A

Keratin_B2

exact variant not in gnomAD13 overlapping SVs

1 paper

chr17:41029893 C>T

NM_001257305.2

p.W62*

c.186G>A

Keratin_B2

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=4, hom=0)13 overlapping SVs

1 paper

chr17:41029860 G>T

NM_001257305.2

p.C73*

c.219C>A

Keratin_B2

exact variant not in gnomAD13 overlapping SVs

1 paper

chr17:41029855 G>C

NM_001257305.2

p.P75R

c.224C>G

Keratin_B2

exact variant not in gnomAD13 overlapping SVs

1 paper

chr17:41029838 T>C

NM_001257305.2

p.S81G

c.241A>G

Keratin_B2

Exome: 0.0% (AC=45, hom=0)Genome: n/a13 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."