Varaico: Literature-Extracted Genetic Variants

Gene:RPTN
Variant:p.M538I

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.M538I
c.1614G>C
Surrounding Variants
4 papers
NM_001122965.1
p.M538I
c.1614G>T
4 papers
NM_001122965.1
p.M538I
c.1614G>A
1 paper
NM_001122965.1
p.Y535*
c.1605C>G
1 paper
NM_001122965.1
p.Y535*
c.1605C>A
1 paper
NM_001122965.1
p.G542D
c.1625G>A
2 papers
NM_001122965.1
p.Q529R
c.1586A>G
6 papers
NM_001122965.1
p.P526T
c.1576C>A
1 paper
NM_001122965.1
p.R552fs
c.1654_1655fs
1 paper
NM_001122965.1
p.Q553R
c.1658A>G
1 paper
NM_001122965.1
p.R552_Q553delFs
c.1655_1658del4
5 papers
NM_001122965.1
p.F521S
c.1562T>C
1 paper
NM_001122965.1
p.S557T
c.1669T>A
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