Varaico: Literature-Extracted Genetic Variants

Gene:CBR1
Variant:p.L62V

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
Selected Variant
1 paper
NM_001757.4
p.L62V
c.184C>G
Surrounding Variants
1 paper
NM_001757.4
p.Q61P
c.182A>C
1 paper
NM_001757.4
p.Q61K
c.181C>A
1 paper
NM_001757.4
p.I64T
c.191T>C
1 paper
NM_001757.4
p.L55P
c.164T>C
1 paper
NM_001757.4
p.A52E
c.155C>A
4 papers
NM_001757.4
p.L73L
c.219G>C
2 papers
NM_001757.4
p.R74L
c.221G>T
1 paper
NM_001757.4
p.D75N
c.223G>A
1 paper
NM_001757.4
p.V47I
c.139G>A
1 paper
NM_001757.4
p.A45T
c.133G>A
1 paper
NM_001757.4
p.Y81F
c.242A>T
3 papers
NM_001757.4
p.G82E
c.245G>A
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