Varaico: Literature-Extracted Genetic Variants

Gene:DHRS2
Variant:p.R58Q

DHRS2

202 papers

RefSeq Summary

This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family, which has over 46,000 members. Members of this family are enzymes that metabolize many different compounds, such a...

Pfam Domains

adh_short_C2aa 43–277UCSCEnoyl-(Acyl carrier protein) reductase

Gene Aliases

HGNC Name

dehydrogenase/reductase 2

HGNC Alias Symbols

HEP27; SDR25C1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005794.4
p.R58Q
c.173G>A
Surrounding Variants
1 paper
NM_005794.4
p.R58R
c.174G>C
1 paper
NM_005794.4
p.D59N
c.175G>A
2 papers
NM_005794.4
p.G60R
c.178G>A
1 paper
NM_005794.4
p.G60R
c.178G>C
1 paper
NM_005794.4
p.G60E
c.179G>A
1 paper
NM_005794.4
p.G60V
c.179G>T
1 paper
NM_005794.4
p.R54*
c.160C>T
1 paper
NM_005794.4
p.I52M
c.156C>G
1 paper
NM_005794.4
p.G49D
c.146G>A
1 paper
NM_005794.4
p.R68Q
c.203G>A
1 paper
NM_005794.4
p.Q70*
c.208C>T
1 paper
NM_005794.4
p.R75W
c.223C>T
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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."