Varaico: Literature-Extracted Genetic Variants

Gene:CBR1

CBR1

89 papers

RefSeq Summary

The protein encoded by this gene belongs to the short-chain dehydrogenases/reductases (SDR) family, which function as NADPH-dependent oxidoreductases having wide specificity for carbonyl compounds, su...

Pfam Domains

adh_shortaa 6–152UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

carbonyl reductase 1

HGNC Alias Symbol

SDR21C1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 81 variants
11 papers
NM_001757.4
p.V88I
c.262G>A
11 papers
NM_001757.4
p.P131S
c.391C>T
9 papers
NM_001757.4
p.A209A
c.627C>T
4 papers
NM_001757.4
p.L73L
c.219G>C
4 papers
NM_001757.4
p.G133Splc
c.398-48C>T
3 papers
NM_001757.4
p.G82E
c.245G>A
3 papers
NM_001757.4
p.V231V
c.693G>A
2 papers
NM_001757.4
p.R74L
c.221G>T
2 papers
NM_001757.4
p.G133Splc
c.397+210G>C
2 papers
NM_001757.4
p.L168R
c.503T>G
2 papers
NM_001757.4
p.T197M
c.590C>T
2 papers
NM_001757.4
p.V201I
c.601G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."