Varaico: Literature-Extracted Genetic Variants

Gene:DHRS4L2

DHRS4L2

49 papers

RefSeq Summary

This gene encodes a member of the short chain dehydrogenase reductase family. The encoded protein may be an NADPH dependent retinol oxidoreductase. Alternate splicing results in multiple transcript va...

Pfam Domains

adh_shortaa 1–114UCSCshort chain dehydrogenase
adh_short_C2aa 35–83UCSCEnoyl-(Acyl carrier protein) reductase

Gene Aliases

HGNC Name

dehydrogenase/reductase 4 like 2

HGNC Alias Symbol

SDR25C3

Papers
RefSeq ID
Protein change
DNA change
1–12 of 44 variants
5 papers
NM_198083.4
p.G109insFs
c.326_327insA
4 papers
NM_198083.4
p.L210insFs
c.629_630insA
3 papers
NM_198083.4
p.Q2H
c.6G>C
3 papers
NM_198083.4
p.Q2H
c.6G>T
3 papers
NM_198083.4
p.R27Q
c.80G>A
3 papers
NM_198083.4
p.N68insFs
c.203_204insA
3 papers
NM_198083.4
p.R159*
c.475C>T
3 papers
NM_198083.4
p.R203_N204insA
c.607_611ins3
2 papers
NM_198083.4
p.M19L
c.55A>C
2 papers
NM_198083.4
p.M19L
c.55A>T
2 papers
NM_198083.4
p.T75M
c.224C>T
2 papers
NM_198083.4
p.E94K
c.280G>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."