Varaico: Literature-Extracted Genetic Variants

Gene:KPRP
Variant:p.R405C

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.R405C
c.1213C>T
Surrounding Variants
1 paper
NM_001025231.3
p.P402L
c.1205C>T
1 paper
NM_001025231.3
p.P401L
c.1202C>T
1 paper
NM_001025231.3
p.R398*
c.1192C>T
12 papers
NM_001025231.3
p.C413S
c.1237T>A
12 papers
NM_001025231.3
p.C413S
c.1238G>C
1 paper
NM_001025231.3
p.L396_P401del0
c.1187_1201del15
1 paper
NM_001025231.3
p.E393K
c.1177G>A
1 paper
NM_001025231.3
p.R386R
c.1158G>A
1 paper
NM_001025231.3
p.R425*
c.1273C>T
1 paper
NM_001025231.3
p.L379I
c.1135C>A
1 paper
NM_001025231.3
p.V374A
c.1121T>C
2 papers
NM_001025231.3
p.P438A
c.1312C>G
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