Varaico: Literature-Extracted Genetic Variants

Gene:RPTN
Variant:p.R65Q

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
2 papers
NM_001122965.1
p.R65Q
c.194G>A
Surrounding Variants
1 paper
NM_001122965.1
p.R65G
c.193C>G
1 paper
NM_001122965.1
p.D64V
c.191A>T
1 paper
NM_001122965.1
p.D64G
c.191A>G
1 paper
NM_001122965.1
p.L58_D66del0
c.173_196del24
2 papers
NM_001122965.1
p.G67R
c.199G>C
2 papers
NM_001122965.1
p.G67R
c.199G>A
1 paper
NM_001122965.1
p.H68L
c.203A>T
2 papers
NM_001122965.1
p.T53_I57delFs
c.158_170del13
1 paper
NM_001122965.1
p.I57N
c.170T>A
1 paper
NM_001122965.1
p.L76_L77delFs
c.226_230del5
1 paper
NM_001122965.1
p.L77delFs
c.230_231delCA
1 paper
NM_001122965.1
p.P51fs
c.151_152fs
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