Varaico: Literature-Extracted Genetic Variants

Gene:RPTN

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
1–12 of 191 variants
14 papers
NM_001122965.1
p.R154G
c.460A>G
9 papers
NM_001122965.1
p.G159S
c.475G>A
6 papers
NM_001122965.1
p.S485F
c.1454C>T
6 papers
NM_001122965.1
p.P526T
c.1576C>A
5 papers
NM_001122965.1
p.F521S
c.1562T>C
4 papers
NM_001122965.1
p.S161P
c.481T>C
4 papers
NM_001122965.1
p.K163R
c.488A>G
4 papers
NM_001122965.1
p.H158_H170del0
c.474_509del36
4 papers
NM_001122965.1
p.M538I
c.1614G>T
4 papers
NM_001122965.1
p.M538I
c.1614G>C
4 papers
NM_001122965.1
p.M538I
c.1614G>A
4 papers
NM_001122965.1
p.E707G
c.2120A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."