Varaico: Literature-Extracted Genetic Variants

Gene:RLBP1
Variant:p.E68delFs

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
3 papers
NM_000326.5
p.E68delFs
c.203delT
Surrounding Variants
1 paper
NM_000326.5
p.E68fs
c.202_203fs
2 papers
NM_000326.5
p.E68fs
c.202_203fs
1 paper
NM_000326.5
p.Q67L
c.200A>T
1 paper
NM_000326.5
p.V70delFs
c.209delA
1 paper
NM_000326.5
p.A72P
c.214G>C
1 paper
NM_000326.5
p.A72A
c.216G>A
1 paper
NM_000326.5
p.R64Q
c.191G>A
1 paper
NM_000326.5
p.R64G
c.190C>G
1 paper
NM_000326.5
p.Q73_A74insFs
c.219_220insAT
1 paper
NM_000326.5
p.A75D
c.224C>A
1 paper
NM_000326.5
p.E60delFs
c.179delT
2 papers
NM_000326.5
p.R59W
c.175C>T
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