Varaico: Literature-Extracted Genetic Variants

Gene:KPRP
Variant:p.R300H

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
3 papers
NM_001025231.3
p.R300H
c.899G>A
Surrounding Variants
1 paper
NM_001025231.3
p.S301C
c.902C>G
1 paper
NM_001025231.3
p.R299C
c.895C>T
2 papers
NM_001025231.3
p.P297P
c.891A>C
1 paper
NM_001025231.3
p.C295R
c.883T>C
2 papers
NM_001025231.3
p.R312H
c.935G>A
1 paper
NM_001025231.3
p.P313L
c.938C>T
1 paper
NM_001025231.3
p.P284S
c.850C>T
1 paper
NM_001025231.3
p.Y282S
c.845A>C
1 paper
NM_001025231.3
p.R326*
c.976C>T
1 paper
NM_001025231.3
p.R326Q
c.977G>A
3 papers
NM_001025231.3
p.P271L
c.812C>T
1 paper
NM_001025231.3
p.S270T
c.808T>A
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