Varaico: Literature-Extracted Genetic Variants

Gene:DHRS4L2
Variant:p.R203K

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
Selected Variant
1 paper
NM_198083.4
p.R203K
c.608G>A
Surrounding Variants
3 papers
NM_198083.4
p.R203_N204insA
c.607_611ins3
1 paper
NM_198083.4
p.N204_I205del2
c.610_614del6
1 paper
NM_198083.4
p.L210fs
c.628_629fs
4 papers
NM_198083.4
p.L210insFs
c.629_630insA
1 paper
NM_001193637.1
p.L68_H69insFs
c.204_205insA
2 papers
NM_198083.4
p.H211fs
c.631_632fs
3 papers
NM_198083.4
p.H211fs
c.631_632fs
NM_001193637.1
p.H69fs
c.205_206fs
1 paper
NM_198083.4
p.N193S
c.578A>G
1 paper
NM_198083.4
p.G178G
c.534C>A
1 paper
NM_198083.4
p.G161G
c.483C>T
3 papers
NM_198083.4
p.R159*
c.475C>T
1 paper
NM_198083.4
p.M148insFs
c.443_444insA
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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."