Varaico: Literature-Extracted Genetic Variants

Gene:KPRP
Variant:p.D512H

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
1 paper
NM_001025231.3
p.D512H
c.1534G>C
Surrounding Variants
1 paper
NM_001025231.3
p.R522delFs
c.1564delC
1 paper
NM_001025231.3
p.R522H
c.1565G>A
1 paper
NM_001025231.3
p.S497T
c.1490G>C
1 paper
NM_001025231.3
p.R496H
c.1487G>A
1 paper
NM_001025231.3
p.C491G
c.1471T>G
1 paper
NM_001025231.3
p.E489K
c.1465G>A
1 paper
NM_001025231.3
p.G538V
c.1613G>T
1 paper
NM_001025231.3
p.P482L
c.1445C>T
1 paper
NM_001025231.3
p.P470Q
c.1409C>A
2 papers
NM_001025231.3
p.R554insFs
c.1660dupC
1 paper
NM_001025231.3
p.R554fs
c.1660_1661fs
1 paper
NM_001025231.3
p.P470S
c.1408C>T
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