Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.T55A

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
1 paper
NM_152443.3
p.T55A
c.163A>G
Surrounding Variants
1 paper
NM_152443.3
p.T55fs
c.163_164fs
5 papers
NM_152443.3
p.T55K
c.164C>A
22 papers
NM_152443.3
p.T55M
c.164C>T
1 paper
NM_152443.3
p.E54E
c.162G>A
1 paper
NM_152443.3
p.A56P
c.166G>C
2 papers
NM_152443.3
p.A56D
c.167C>A
1 paper
NM_152443.3
p.E54_T55insFs
c.162_163dupGA
1 paper
NM_152443.3
p.K53_E54ins1
c.159_160insTAA
2 papers
NM_152443.3
p.R57_A60del4
c.169_179del12
1 paper
NM_152443.3
p.G52C
c.154G>T
10 papers
NM_152443.3
p.I51N
c.152T>A
2 papers
NM_152443.3
p.I51T
c.152T>C
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