Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP10-3
Variant:p.R205C

KRTAP10-3

27 papers

RefSeq Summary

This gene encodes 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...

Pfam Domains

Keratin_B2_2aa 71–118UCSCKeratin, high sulfur B2 protein

Gene Aliases

HGNC Name

keratin associated protein 10-3

HGNC Previous Symbol

KRTAP18-3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_198696.3
p.R205C
c.613C>T
Surrounding Variants
1 paper
NM_198696.3
p.R205H
c.614G>A
1 paper
NM_198696.3
p.T202M
c.605C>T
1 paper
NM_198696.3
p.R200C
c.598C>T
1 paper
NM_198696.3
p.P191L
c.572C>T
2 papers
NM_198696.3
p.P191T
c.571C>A
1 paper
NM_198696.3
p.R190C
c.568C>T
1 paper
NM_198696.3
p.S220T
c.659G>C
1 paper
NM_198696.3
p.P186L
c.557C>T
2 papers
NM_198696.3
p.P186S
c.556C>T
1 paper
NM_198696.3
p.C170Y
c.509G>A
3 papers
NM_198696.3
p.C124Y
c.371G>A
1 paper
NM_198696.3
p.P112S
c.334C>T
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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."