Varaico: Literature-Extracted Genetic Variants

Gene:KPRP
Variant:p.Y578fs

KPRP

108 papers

RefSeq Summary

This gene encodes a proline-rich skin protein possibly involved in keratinocyte differentiation. [provided by RefSeq, Jul 2016].

Gene Aliases

HGNC Name

keratinocyte proline rich protein

HGNC Previous Symbol

C1orf45

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001025231.3
p.Y578fs
c.1732_1733fs
Surrounding Variants
2 papers
NM_001025231.3
p.Y578insFs
c.1734dupT
1 paper
NM_001025231.3
p.F579L
c.1735T>C
1 paper
NM_001025231.3
p.F579L
c.1737T>A
1 paper
NM_001025231.3
p.F579L
c.1737T>G
1 paper
NM_001025231.3
p.R554Q
c.1661G>A
1 paper
NM_001025231.3
p.R554fs
c.1660_1661fs
1 paper
NM_001025231.3
p.R554W
c.1660C>T
1 paper
NM_001025231.3
p.R554fs
c.1660_1661fs
2 papers
NM_001025231.3
p.R554insFs
c.1660dupC
1 paper
NM_001025231.3
p.G538V
c.1613G>T
1 paper
NM_001025231.3
p.R522H
c.1565G>A
1 paper
NM_001025231.3
p.R522delFs
c.1564delC
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."