Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP1-3
Variant:p.C34S

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
2 papers
NM_030966.2
p.C34S
c.100T>A
Surrounding Variants
3 papers
NM_030966.2
p.C34ins10
c.100_101ins30
1 paper
NM_030966.2
p.C34delins
c.101delinsCCTGCCAGCCAAGCTGCTGTGAGACCAGCTG
2 papers
NM_030966.2
p.C34S
c.101G>C
4 papers
NM_030966.2
p.C40ins10
c.119_120ins30
3 papers
NM_030966.2
p.C40delins
c.120delinsTGAGACCAGCTGCTGCCAGCCAAGCTGCTGC
7 papers
NM_030966.2
p.Q41E
c.121C>G
3 papers
NM_030966.2
p.C24S
c.71G>C
3 papers
NM_030966.2
p.C24S
c.70T>A
1 paper
NM_030966.2
p.F44C
c.131T>G
1 paper
NM_030966.2
p.C20_S22del3
c.58_65del9
1 paper
NM_030966.2
p.T19_S22del0
c.57_65del9
1 paper
NM_030966.2
p.C20_S22delFs
c.58_64del7
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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."