Varaico: Literature-Extracted Genetic Variants

Gene:RPTN
Variant:p.K163R

RPTN

142 papers

Pfam Domains

S_100aa 4–48UCSCS-100/ICaBP type calcium binding domain

Gene Aliases

HGNC Name

repetin

HGNC Alias Symbol

FLJ39117

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_001122965.1
p.K163R
c.488A>G
Surrounding Variants
1 paper
NM_001122965.1
p.K163fs
c.487_488fs
1 paper
NM_001122965.1
p.K163delFs
c.489delT
4 papers
NM_001122965.1
p.S161P
c.481T>C
1 paper
NM_001122965.1
p.G159fs
c.475_476fs
9 papers
NM_001122965.1
p.G159S
c.475G>A
1 paper
NM_001122965.1
p.H158fs
c.472_473fs
1 paper
NM_001122965.1
p.H158Q
c.474T>G
1 paper
NM_001122965.1
p.H158H
c.474T>C
1 paper
NM_001122965.1
p.S168T
c.502T>A
1 paper
NM_001122965.1
p.H158Q
c.474T>A
1 paper
NM_001122965.1
p.H158_H170Fs
c.474_509delinsGFs
1 paper
NM_001122965.1
p.H158_H170Fs
c.474_509delinsCFs
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