Varaico: Literature-Extracted Genetic Variants

Gene:DHRS4L2
Variant:p.G109insFs

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
5 papers
NM_198083.4
p.G109insFs
c.326_327insA
Surrounding Variants
1 paper
NM_198083.4
p.A103S
c.307G>T
2 papers
NM_198083.4
p.L126I
c.376C>A
1 paper
NM_198083.4
p.L126P
c.377T>C
1 paper
NM_198083.4
p.E131G
c.392A>G
2 papers
NM_198083.4
p.E94K
c.280G>A
1 paper
NM_198083.4
p.K92R
c.275A>G
1 paper
NM_198083.4
p.E79G
c.236A>G
1 paper
NM_198083.4
p.Q77insFs
c.230dupA
1 paper
NM_198083.4
p.Q77fs
c.229_230fs
2 papers
NM_198083.4
p.T75M
c.224C>T
1 paper
NM_198083.4
p.A72V
c.215C>T
1 paper
NM_198083.4
p.N68_V69delFs
c.204_205delTG
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