Varaico: Literature-Extracted Genetic Variants

Gene:RPTN
Variant:p.R771Q

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
1 paper
NM_001122965.1
p.R771Q
c.2312G>A
Surrounding Variants
1 paper
NM_001122965.1
p.R771*
c.2311C>T
1 paper
NM_001122965.1
p.R768H
c.2303G>A
1 paper
NM_001122965.1
p.K765*
c.2293A>T
1 paper
NM_001122965.1
p.D778D
c.2334C>T
1 paper
NM_001122965.1
p.T761P
c.2281A>C
2 papers
NM_001122965.1
p.R757Q
c.2270G>A
1 paper
NM_001122965.1
p.R757*
c.2269C>T
1 paper
NM_001122965.1
p.H750Q
c.2250T>G
1 paper
NM_001122965.1
p.H750Q
c.2250T>A
4 papers
NM_001122965.1
p.R743*
c.2227C>T
1 paper
NM_001122965.1
p.Q741*
c.2221C>T
2 papers
NM_001122965.1
p.N739I
c.2216A>T
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