Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP1-3
Variant:p.C75S

KRTAP1-3

44 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 1–167UCSCKeratin, high sulfur B2 protein

Gene Aliases

HGNC Name

keratin associated protein 1-3

HGNC Alias Symbol

KAP1.3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030966.2
p.C75S
c.223T>A
Surrounding Variants
1 paper
NM_030966.2
p.C75S
c.224G>C
1 paper
NM_030966.2
p.S79T
c.236G>C
1 paper
NM_030966.2
p.S58_S64del7
c.172_191del21
1 paper
NM_030966.2
p.G86R
c.256G>C
1 paper
NM_030966.2
p.S64_C65ins4
c.190_194ins12
1 paper
NM_030966.2
p.S64_C65ins6
c.190_194ins18
1 paper
NM_030966.2
p.S51S
c.153A>C
3 papers
NM_030966.2
p.S99G
c.295A>G
1 paper
NM_030966.2
p.G46R
c.136G>C
1 paper
NM_030966.2
p.G46R
c.136G>A
1 paper
NM_030966.2
p.F44C
c.131T>G
1 paper
NM_030966.2
p.I106V
c.316A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."