Varaico: Literature-Extracted Genetic Variants

Gene:RPTN
Variant:p.E707G

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.E707G
c.2120A>G
Surrounding Variants
1 paper
NM_001122965.1
p.H703_W704del2
c.2107_2111del6
1 paper
NM_001122965.1
p.G698G
c.2094T>C
1 paper
NM_001122965.1
p.H697Y
c.2089C>T
1 paper
NM_001122965.1
p.R694G
c.2080A>G
1 paper
NM_001122965.1
p.H688_T693del6
c.2062_2078del18
1 paper
NM_001122965.1
p.G676_Q690del15
c.2026_2069del45
1 paper
NM_001122965.1
p.D730G
c.2189A>G
1 paper
NM_001122965.1
p.S681P
c.2041T>C
2 papers
NM_001122965.1
p.N739I
c.2216A>T
1 paper
NM_001122965.1
p.Q741*
c.2221C>T
4 papers
NM_001122965.1
p.R743*
c.2227C>T
1 paper
NM_001122965.1
p.H750Q
c.2250T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."