Varaico: Literature-Extracted Genetic Variants

Gene:KPRP
Variant:p.C172C

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.C172C
c.516C>T
Surrounding Variants
7 papers
NM_001025231.3
p.R168H
c.503G>A
1 paper
NM_001025231.3
p.C182F
c.545G>T
1 paper
NM_001025231.3
p.T200N
c.599C>A
1 paper
NM_001025231.3
p.Y140H
c.418T>C
1 paper
NM_001025231.3
p.F208V
c.622T>G
1 paper
NM_001025231.3
p.F132F
c.396C>T
1 paper
NM_001025231.3
p.S216T
c.647G>C
1 paper
NM_001025231.3
p.P127H
c.380C>A
2 papers
NM_001025231.3
p.A124A
c.372G>C
1 paper
NM_001025231.3
p.R222Q
c.665G>A
1 paper
NM_001025231.3
p.R224_F227del4
c.670_680del12
1 paper
NM_001025231.3
p.R224Q
c.671G>A
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