Varaico: Literature-Extracted Genetic Variants

Gene:RLBP1
Variant:p.M226K

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
12 papers
NM_000326.5
p.M226K
c.677T>A
Surrounding Variants
1 paper
NM_000326.5
p.M226_L227delFs
c.678_681del4
1 paper
NM_000326.5
p.Q228R
c.683A>G
1 paper
NM_000326.5
p.Q228Q
c.684G>A
1 paper
NM_000326.5
p.M223insFs
c.668dupT
1 paper
NM_000326.5
p.R221delFs
c.662delC
1 paper
NM_000326.5
p.Q228_D229Splc
c.684+7C>G
2 papers
NM_000326.5
p.R221W
c.661A>T
2 papers
NM_000326.5
p.Q228_D229Splc
c.684+20C>T
2 papers
NM_000326.5
p.R216Q
c.647G>A
2 papers
NM_000326.5
p.R216W
c.646C>T
1 paper
NM_000326.5
p.A213_S214insFs
c.639_640insA
3 papers
NM_000326.5
p.Q210R
c.629A>G
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