Varaico: Literature-Extracted Genetic Variants

Gene:KRT24
Variant:p.S53R

KRT24

126 papers

RefSeq Summary

This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form t...

Pfam Domains

Filamentaa 139–454UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 24

HGNC Alias Symbols

FLJ20261; MGC138169; MGC138173

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019016.3
p.S53R
c.157A>C
Surrounding Variants
1 paper
NM_019016.3
p.S53R
c.159T>G
1 paper
NM_019016.3
p.S53R
c.159T>A
1 paper
NM_019016.3
p.G55delFs
c.165delC
1 paper
NM_019016.3
p.S56fs
c.166_167fs
1 paper
NM_019016.3
p.G45R
c.133G>C
1 paper
NM_019016.3
p.G45R
c.133G>A
1 paper
NM_019016.3
p.G62C
c.184G>T
3 papers
NM_019016.3
p.R44*
c.130C>T
1 paper
NM_019016.3
p.G62G
c.186C>A
1 paper
NM_019016.3
p.Q41R
c.122A>G
1 paper
NM_019016.3
p.G65E
c.194G>A
1 paper
NM_019016.3
p.G37fs
c.109_110fs
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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."