Varaico: Literature-Extracted Genetic Variants

Gene:RLBP1
Variant:p.I163fs

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
2 papers
NM_000326.5
p.I163fs
c.487_488fs
Surrounding Variants
1 paper
NM_000326.5
p.R151_N162del12
c.451_485del36
2 papers
NM_000326.5
p.I163insFs
c.487dupA
2 papers
NM_000326.5
p.I163T
c.488T>C
1 paper
NM_000326.5
p.E164*
c.490G>T
1 paper
NM_000326.5
p.L160R
c.479T>G
1 paper
NM_000326.5
p.W166G
c.496T>G
1 paper
NM_000326.5
p.V158V
c.474C>T
2 papers
NM_000326.5
p.S168fs
c.502_503fs
1 paper
NM_000326.5
p.E170*
c.508G>T
6 papers
NM_000326.5
p.R156*
c.466C>T
3 papers
NM_000326.5
p.S168_E170delFs
c.504_508del5
2 papers
NM_000326.5
p.I171_T172insFs
c.513_514insTT
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."