Varaico: Literature-Extracted Genetic Variants

Gene:RLBP1
Variant:p.R234W

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
37 papers
NM_000326.5
p.R234W
c.700C>T
Surrounding Variants
4 papers
NM_000326.5
p.R234Q
c.701G>A
1 paper
NM_000326.5
p.P232delFs
c.695delG
1 paper
NM_000326.5
p.P232fs
c.694_695fs
1 paper
NM_000326.5
p.A237V
c.710C>T
1 paper
NM_000326.5
p.S230F
c.689C>T
1 paper
NM_000326.5
p.F240insFs
c.719_720insG
1 paper
NM_000326.5
p.I241_H242del2
c.721_725del6
1 paper
NM_000326.5
p.Y251*
c.753C>G
1 paper
NM_000326.5
p.Y251*
c.753C>A
5 papers
NM_000326.5
p.L258W
c.773T>G
1 paper
NM_000326.5
p.L262L
c.784C>T
1 paper
NM_000326.5
p.V268_G270Fs
c.802_810delinsGCFs
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