Varaico: Literature-Extracted Genetic Variants

Gene:RLBP1
Variant:p.A102G

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.A102G
c.305C>G
Surrounding Variants
1 paper
NM_000326.5
p.A102T
c.304G>A
1 paper
NM_000326.5
p.A102A
c.306A>G
6 papers
NM_000326.5
p.R103W
c.307C>T
11 papers
NM_000326.5
p.F96_F99del0
c.286_297del12
1 paper
NM_000326.5
p.R98C
c.292C>T
1 paper
NM_000326.5
p.L97L
c.289C>T
1 paper
NM_000326.5
p.R109S
c.325C>A
1 paper
NM_000326.5
p.R109H
c.326G>A
6 papers
NM_000326.5
p.G94delFs
c.282delG
1 paper
NM_000326.5
p.F95fs
c.283_284fs
1 paper
NM_000326.5
p.G94fs
c.280_281fs
1 paper
NM_000326.5
p.Y111S
c.332A>C
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