Varaico: Literature-Extracted Genetic Variants

Gene:RPTN
Variant:p.Q567H

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.Q567H
c.1701G>T
Surrounding Variants
1 paper
NM_001122965.1
p.Q567H
c.1701G>C
1 paper
NM_001122965.1
p.G566V
c.1697G>T
1 paper
NM_001122965.1
p.Y569S
c.1706A>C
1 paper
NM_001122965.1
p.T574R
c.1721C>G
2 papers
NM_001122965.1
p.G560S
c.1678G>A
1 paper
NM_001122965.1
p.Y559*
c.1677C>G
1 paper
NM_001122965.1
p.Y559*
c.1677C>A
1 paper
NM_001122965.1
p.S557T
c.1669T>A
1 paper
NM_001122965.1
p.R552_Q553delFs
c.1655_1658del4
1 paper
NM_001122965.1
p.Q553R
c.1658A>G
1 paper
NM_001122965.1
p.R552fs
c.1654_1655fs
2 papers
NM_001122965.1
p.G593R
c.1777G>C
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