Varaico: Literature-Extracted Genetic Variants

Gene:RLBP1
Variant:p.I201T

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.I201T
c.602T>C
Surrounding Variants
1 paper
NM_000326.5
p.E202Q
c.604G>C
3 papers
NM_000326.5
p.I200T
c.599T>C
1 paper
NM_000326.5
p.C199*
c.597C>A
1 paper
NM_000326.5
p.F204fs
c.610_611fs
1 paper
NM_000326.5
p.M209K
c.626T>A
3 papers
NM_000326.5
p.Q210R
c.629A>G
1 paper
NM_000326.5
p.A213_S214insFs
c.639_640insA
2 papers
NM_000326.5
p.R216W
c.646C>T
2 papers
NM_000326.5
p.R216Q
c.647G>A
2 papers
NM_000326.5
p.F182C
c.545T>G
2 papers
NM_000326.5
p.R221W
c.661A>T
1 paper
NM_000326.5
p.R221delFs
c.662delC
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."