Varaico: Literature-Extracted Genetic Variants

Gene:RLBP1

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
1–12 of 173 variants
37 papers
NM_000326.5
p.R234W
c.700C>T
14 papers
NM_000326.5
p.R151Q
c.452G>A
12 papers
NM_000326.5
p.M226K
c.677T>A
11 papers
NM_000326.5
p.R9C
c.25C>T
11 papers
NM_000326.5
p.F96_F99del0
c.286_297del12
9 papers
NM_000326.5
p.P286_D297del12
c.856_890del36
8 papers
NM_000326.5
p.P133delFs
c.398delG
7 papers
NM_000326.5
p.G116R
c.346G>C
7 papers
NM_000326.5
p.R151W
c.451C>T
6 papers
NM_000326.5
p.K47K
c.141G>A
6 papers
NM_000326.5
p.G94delFs
c.282delG
6 papers
NM_000326.5
p.R103W
c.307C>T
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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."