Varaico: Literature-Extracted Genetic Variants

Gene:KRT78
Variant:p.R33K

KRT78

74 papers

RefSeq Summary

This gene is a member of the type II keratin gene family and encodes a protein with an intermediate filament domain. Keratins are the major structural proteins in epithelial cells, forming a cytoplasm...

Pfam Domains

Keratin_2_headaa 46–107UCSCKeratin type II head
Keratin_2_headaa 46–107UCSCKeratin type II head
Filamentaa 110–423UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 78

HGNC Alias Symbol

K5B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_173352.4
p.R33K
c.98G>A
Surrounding Variants
1 paper
NM_173352.4
p.S32R
c.96C>G
1 paper
NM_173352.4
p.S32R
c.96C>A
1 paper
NM_173352.4
p.G28_G34del0
c.84_101del18
1 paper
NM_173352.4
p.S32R
c.94A>C
1 paper
NM_173352.4
p.S37R
c.111C>A
1 paper
NM_173352.4
p.R25R
c.75C>T
1 paper
NM_173352.4
p.G24C
c.70G>T
1 paper
NM_173352.4
p.R21G
c.61C>G
2 papers
NM_173352.4
p.G46R
c.136G>C
2 papers
NM_173352.4
p.G46R
c.136G>A
1 paper
NM_173352.4
p.S16fs
c.46_47fs
1 paper
NM_173352.4
p.R52H
c.155G>A
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."