Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.T257M

RDH12

339 papers

RefSeq Summary

The protein encoded by this gene is an NADPH-dependent retinal reductase whose highest activity is toward 9-cis and all-trans-retinol. The encoded enzyme also plays a role in the metabolism of short-c...

Pfam Domains

adh_shortaa 40–243UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

retinol dehydrogenase 12

HGNC Alias Symbols

FLJ30273; SDR7C2; LCA13; RP53

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_152443.3
p.T257M
c.770C>T
Surrounding Variants
3 papers
NM_152443.3
p.K256N
c.768G>T
1 paper
NM_152443.3
p.K256delFs
c.766delA
11 papers
NM_152443.3
p.R259delFs
c.776delG
2 papers
NM_152443.3
p.V255G
c.764T>G
4 papers
NM_152443.3
p.V255fs
c.763_764fs
6 papers
NM_152443.3
p.E260fs
c.778_779fs
1 paper
NM_152443.3
p.F254L
c.762T>A
1 paper
NM_152443.3
p.F254L
c.762T>G
8 papers
NM_152443.3
p.V255delFs
c.763delG
5 papers
NM_152443.3
p.A262insFs
c.784dupG
4 papers
NM_152443.3
p.A262delFs
c.784delG
1 paper
NM_152443.3
p.F254L
c.760T>C
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