Varaico: Literature-Extracted Genetic Variants

Gene:RPTN
Variant:p.E102V

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.E102V
c.305A>T
Surrounding Variants
1 paper
NM_001122965.1
p.E102K
c.304G>A
1 paper
NM_001122965.1
p.S99S
c.297A>T
1 paper
NM_001122965.1
p.S99_Q100ins6
c.295_299ins18
1 paper
NM_001122965.1
p.A108T
c.322G>A
1 paper
NM_001122965.1
p.D110H
c.328G>C
1 paper
NM_001122965.1
p.E102_D110del9
c.304_329del27
1 paper
NM_001122965.1
p.E126K
c.376G>A
1 paper
NM_001122965.1
p.L77delFs
c.230_231delCA
1 paper
NM_001122965.1
p.L76_L77delFs
c.226_230del5
1 paper
NM_001122965.1
p.E128G
c.383A>G
1 paper
NM_001122965.1
p.H68L
c.203A>T
2 papers
NM_001122965.1
p.G67R
c.199G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."