Varaico: Literature-Extracted Genetic Variants

Gene:RPTN
Variant:p.Q642*

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.Q642*
c.1924C>T
Surrounding Variants
1 paper
NM_001122965.1
p.Q642E
c.1924C>G
2 papers
NM_001122965.1
p.S638P
c.1912T>C
1 paper
NM_001122965.1
p.V648I
c.1942G>A
1 paper
NM_001122965.1
p.Q630K
c.1888C>A
1 paper
NM_001122965.1
p.Q659R
c.1976A>G
1 paper
NM_001122965.1
p.P624S
c.1870C>T
1 paper
NM_001122965.1
p.Q621*
c.1861C>T
1 paper
NM_001122965.1
p.E611*
c.1831G>T
1 paper
NM_001122965.1
p.T604K
c.1811C>A
1 paper
NM_001122965.1
p.S681P
c.2041T>C
1 paper
NM_001122965.1
p.G600W
c.1798G>T
2 papers
NM_001122965.1
p.G593R
c.1777G>C
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