Varaico: Literature-Extracted Genetic Variants

Gene:CLVS1
Variant:p.R70H

CLVS1

35 papers

Pfam Domains

CRAL_TRIO_Naa 51–96UCSCCRAL/TRIO, N-terminal domain
CRAL_TRIOaa 124–273UCSCCRAL/TRIO domain

Gene Aliases

HGNC Name

clavesin 1

HGNC Previous Symbol

RLBP1L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_173519.3
p.R70H
c.209G>A
Surrounding Variants
1 paper
NM_173519.3
p.G67E
c.200G>A
1 paper
NM_173519.3
p.I60F
c.178A>T
2 papers
NM_173519.3
p.R81Q
c.242G>A
1 paper
NM_173519.3
p.R92T
c.275G>C
1 paper
NM_173519.3
p.Y97C
c.290A>G
1 paper
NM_173519.3
p.F98F
c.294C>T
1 paper
NM_173519.3
p.P32S
c.94C>T
1 paper
NM_173519.3
p.A113delFs
c.339delA
1 paper
NM_173519.3
p.N17N
c.51C>T
1 paper
NM_173519.3
p.D124N
c.370G>A
1 paper
NM_173519.3
p.K12K
c.36G>A
1 paper
NM_173519.3
p.Y136Y
c.408C>T
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