Varaico: Literature-Extracted Genetic Variants

Gene:RPTN
Variant:p.P478T

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.P478T
c.1432C>A
Surrounding Variants
1 paper
NM_001122965.1
p.Y475_S476delFs
c.1425_1426delTG
1 paper
NM_001122965.1
p.S476C
c.1426A>T
2 papers
NM_001122965.1
p.K480R
c.1439A>G
1 paper
NM_001122965.1
p.K480T
c.1439A>C
1 paper
NM_001122965.1
p.S484N
c.1451G>A
6 papers
NM_001122965.1
p.S485F
c.1454C>T
1 paper
NM_001122965.1
p.H486insFs
c.1457_1458ins34
1 paper
NM_001122965.1
p.H486fs
c.1456_1457fs
1 paper
NM_001122965.1
p.Y487insFs
c.1460_1461ins17
3 papers
NM_001122965.1
p.K489Q
c.1465A>C
1 paper
NM_001122965.1
p.I490T
c.1469T>C
1 paper
NM_001122965.1
p.G464V
c.1391G>T
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