Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP4-11
Variant:p.L161V

KRTAP4-11

56 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_B2_2aa 19–63UCSCKeratin, high sulfur B2 protein
Keratin_B2_2aa 104–148UCSCKeratin, high sulfur B2 protein

Gene Aliases

HGNC Name

keratin associated protein 4-11

HGNC Previous Symbol

KRTAP4-14

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_033059.4
p.L161V
c.481C>G
Surrounding Variants
2 papers
NM_033059.4
p.P137P
c.411C>T
1 paper
NM_033059.4
p.C184W
c.552C>G
2 papers
NM_033059.4
p.H136R
c.407A>G
1 paper
NM_033059.4
p.R186H
c.557G>A
1 paper
NM_033059.4
p.R186fs
c.556_557fs
1 paper
NM_033059.4
p.V128E
c.383T>A
2 papers
NM_033059.4
p.C125Y
c.374G>A
2 papers
NM_033059.4
p.R121K
c.362G>A
1 paper
NM_033059.4
p.R103S
c.309A>T
1 paper
NM_033059.4
p.R103S
c.309A>C
2 papers
NM_033059.4
p.T98T
c.294T>C
8 papers
NM_033059.4
p.M93V
c.277A>G
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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."