Varaico: Literature-Extracted Genetic Variants

Gene:RPTN
Variant:p.R432fs

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.R432fs
c.1294_1295fs
Surrounding Variants
1 paper
NM_001122965.1
p.R432fs
c.1294_1295fs
1 paper
NM_001122965.1
p.R432_Q433delFs
c.1295_1298del4
1 paper
NM_001122965.1
p.G428S
c.1282G>A
1 paper
NM_001122965.1
p.Y427Y
c.1281C>T
1 paper
NM_001122965.1
p.H438N
c.1312C>A
1 paper
NM_001122965.1
p.G424C
c.1270G>T
1 paper
NM_001122965.1
p.G424S
c.1270G>A
2 papers
NM_001122965.1
p.P442T
c.1324C>A
1 paper
NM_001122965.1
p.R420R
c.1258C>A
1 paper
NM_001122965.1
p.R444K
c.1331G>A
1 paper
NM_001122965.1
p.M418I
c.1254G>T
1 paper
NM_001122965.1
p.M418I
c.1254G>C
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