Varaico: Literature-Extracted Genetic Variants

Gene:RLBP1
Variant:p.R19G

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.R19G
c.55C>G
Surrounding Variants
1 paper
NM_000326.5
p.R19C
c.55C>T
1 paper
NM_000326.5
p.A20A
c.60C>T
2 papers
NM_000326.5
p.Q16*
c.46C>T
2 papers
NM_000326.5
p.L22P
c.65T>C
1 paper
NM_000326.5
p.L22Q
c.65T>A
1 paper
NM_000326.5
p.P12_E15delFs
c.34_44del11
1 paper
NM_000326.5
p.L25F
c.73C>T
1 paper
NM_000326.5
p.L25V
c.73C>G
1 paper
NM_000326.5
p.V11_P12insFs
c.33_34ins16
1 paper
NM_000326.5
p.V11insFs
c.32dupT
2 papers
NM_000326.5
p.T27fs
c.79_80fs
2 papers
NM_000326.5
p.T27P
c.79A>C
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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."