Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP13-1
Variant:p.R148H

KRTAP13-1

26 papers

RefSeq Summary

Hair keratins and hair keratin-associated proteins (KAPs), such as KRTAP13-1, are the main structural proteins of hair fibers (Rogers et al., 2002 [PubMed 12359730]).[supplied by OMIM, Mar 2008].

Pfam Domains

PMGaa 1–170UCSCPMG protein

Gene Aliases

HGNC Name

keratin associated protein 13-1

HGNC Alias Symbol

KAP13.1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_181599.3
p.R148H
c.443G>A
Surrounding Variants
2 papers
NM_181599.3
p.V144I
c.430G>A
1 paper
NM_181599.3
p.R155K
c.464G>A
1 paper
NM_181599.3
p.S160A
c.478T>G
2 papers
NM_181599.3
p.P164T
c.490C>A
1 paper
NM_181599.3
p.G167V
c.500G>T
1 paper
NM_181599.3
p.S125C
c.373A>T
1 paper
NM_181599.3
p.R108L
c.323G>T
1 paper
NM_181599.3
p.T94T
c.282A>C
1 paper
NM_181599.3
p.S90_P91ins11
c.268_272ins33
1 paper
NM_181599.3
p.Y70fs
c.208_209fs
2 papers
NM_181599.3
p.S69delFs
c.207delC
1 paper
NM_181599.3
p.T68_Y70del3
c.202_209del9
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