Varaico: Literature-Extracted Genetic Variants

Gene:RLBP1
Variant:p.Y124delFs

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
1 paper
NM_000326.5
p.Y124delFs
c.370delA
Surrounding Variants
1 paper
NM_000326.5
p.Y124fs
c.370_371fs
1 paper
NM_000326.5
p.R121_P125del5
c.361_374del15
2 papers
NM_000326.5
p.R121Q
c.362G>A
5 papers
NM_000326.5
p.R121W
c.361C>T
1 paper
NM_000326.5
p.D129G
c.386A>G
1 paper
NM_000326.5
p.G116delFs
c.348delG
1 paper
NM_000326.5
p.Y117fs
c.349_350fs
7 papers
NM_000326.5
p.G116R
c.346G>C
6 papers
NM_000326.5
p.P133fs
c.397_398fs
1 paper
NM_000326.5
p.P133Q
c.398C>A
8 papers
NM_000326.5
p.P133delFs
c.398delG
2 papers
NM_000326.5
p.E141K
c.421G>A
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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."