Varaico: Literature-Extracted Genetic Variants

Gene:RLBP1
Variant:p.V33V

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.V33V
c.99C>A
Surrounding Variants
1 paper
NM_000326.5
p.P32_V33delFs
c.96_99del4
1 paper
NM_000326.5
p.V33_F34ins16
c.97_101ins48
2 papers
NM_000326.5
p.G35S
c.103G>A
1 paper
NM_000326.5
p.P36L
c.107C>T
4 papers
NM_000326.5
p.T27delFs
c.79delT
2 papers
NM_000326.5
p.T27fs
c.79_80fs
2 papers
NM_000326.5
p.T27P
c.79A>C
1 paper
NM_000326.5
p.P41fs
c.121_122fs
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.P41_R42delFs
c.121_125del5
2 papers
NM_000326.5
p.L22P
c.65T>C
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