Varaico: Literature-Extracted Genetic Variants

Gene:RPTN
Variant:p.M418I

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.M418I
c.1254G>A
Surrounding Variants
1 paper
NM_001122965.1
p.M418I
c.1254G>T
1 paper
NM_001122965.1
p.M418I
c.1254G>C
1 paper
NM_001122965.1
p.M418T
c.1253T>C
1 paper
NM_001122965.1
p.R420R
c.1258C>A
1 paper
NM_001122965.1
p.S416R
c.1248T>G
1 paper
NM_001122965.1
p.S416R
c.1248T>A
1 paper
NM_001122965.1
p.S416R
c.1246A>C
1 paper
NM_001122965.1
p.G424C
c.1270G>T
1 paper
NM_001122965.1
p.G424S
c.1270G>A
1 paper
NM_001122965.1
p.Y427Y
c.1281C>T
1 paper
NM_001122965.1
p.G428S
c.1282G>A
3 papers
NM_001122965.1
p.E407D
c.1221G>T
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