Varaico: Literature-Extracted Genetic Variants

Gene:RLBP1
Variant:p.R151W

RLBP1

206 papers

RefSeq Summary

The protein encoded by this gene is a 36-kD water-soluble protein which carries 11-cis-retinaldehyde or 11-cis-retinal as physiologic ligands. It may be a functional component of the visual cycle. Mut...

Pfam Domains

CRAL_TRIO_Naa 16–116UCSCCRAL/TRIO, N-terminal domain
CRAL_TRIOaa 141–291UCSCCRAL/TRIO domain

Gene Aliases

HGNC Name

retinaldehyde binding protein 1

HGNC Alias Symbol

CRALBP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_000326.5
p.R151W
c.451C>T
Surrounding Variants
14 papers
NM_000326.5
p.R151Q
c.452G>A
1 paper
NM_000326.5
p.S150delFs
c.448delT
1 paper
NM_000326.5
p.D152N
c.454G>A
1 paper
NM_000326.5
p.S150G
c.448A>G
2 papers
NM_000326.5
p.S149F
c.446C>T
1 paper
NM_000326.5
p.V147D
c.440T>A
3 papers
NM_000326.5
p.G146D
c.437G>A
1 paper
NM_000326.5
p.Y144_P145del0
c.430_435del6
6 papers
NM_000326.5
p.R156*
c.466C>T
1 paper
NM_000326.5
p.P145Fs
c.433delinsATAFs
1 paper
NM_000326.5
p.G143_Y144Fs
c.429_432delinsGGTFs
1 paper
NM_000326.5
p.Y144H
c.430T>C
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