Varaico: Literature-Extracted Genetic Variants

Gene:RLBP1
Variant:p.K47K

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
6 papers
NM_000326.5
p.K47K
c.141G>A
Surrounding Variants
5 papers
NM_000326.5
p.K47_A48Splc
c.141+2T>C
1 paper
NM_000326.5
p.Q46*
c.136C>T
1 paper
NM_000326.5
p.F34_T44del11
c.100_131del33
1 paper
NM_000326.5
p.P41_R42delFs
c.121_125del5
1 paper
NM_000326.5
p.P41fs
c.121_122fs
1 paper
NM_000326.5
p.P36L
c.107C>T
2 papers
NM_000326.5
p.G35S
c.103G>A
1 paper
NM_000326.5
p.P32_V33delFs
c.96_99del4
1 paper
NM_000326.5
p.V33V
c.99C>A
1 paper
NM_000326.5
p.V33_F34ins16
c.97_101ins48
4 papers
NM_000326.5
p.T27delFs
c.79delT
2 papers
NM_000326.5
p.T27fs
c.79_80fs
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."