Varaico: Literature-Extracted Genetic Variants

Gene:RLBP1
Variant:p.D271Y

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.D271Y
c.811G>T
Surrounding Variants
1 paper
NM_000326.5
p.V268_G270Fs
c.802_810delinsGCFs
1 paper
NM_000326.5
p.D271delFs
c.811delC
1 paper
NM_000326.5
p.L273F
c.817C>T
1 paper
NM_000326.5
p.Q278fs
c.832_833fs
2 papers
NM_000326.5
p.Q278*
c.832C>T
2 papers
NM_000326.5
p.Q278delFs
c.832delG
1 paper
NM_000326.5
p.E279E
c.837G>A
1 paper
NM_000326.5
p.L285delFs
c.855delC
1 paper
NM_000326.5
p.T292M
c.875C>T
1 paper
NM_000326.5
p.T292_Y296Fs
c.875_888delinsTTTFs
9 papers
NM_000326.5
p.P286_D297del12
c.856_890del36
3 papers
NM_000326.5
p.G298D
c.893G>A
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