Varaico: Literature-Extracted Genetic Variants

Gene:DHRS4L2
Variant:p.A49T

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.A49T
c.145G>A
Surrounding Variants
1 paper
NM_198083.4
p.R50Q
c.149G>A
1 paper
NM_198083.4
p.R56G
c.166A>G
1 paper
NM_198083.4
p.H58Y
c.172C>T
1 paper
NM_198083.4
p.V60A
c.179T>C
1 paper
NM_198083.4
p.V60V
c.180C>T
1 paper
NM_198083.4
p.V61F
c.181G>T
3 papers
NM_198083.4
p.N68insFs
c.203_204insA
1 paper
NM_198083.4
p.N68_V69delFs
c.204_205delTG
1 paper
NM_198083.4
p.A72V
c.215C>T
2 papers
NM_198083.4
p.T75M
c.224C>T
1 paper
NM_198083.4
p.Q77insFs
c.230dupA
1 paper
NM_198083.4
p.Q77fs
c.229_230fs
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