Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B2
Variant:p.D61V

HSD3B2

249 papers

RefSeq Summary

The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a cruci...

Pfam Domains

3Beta_HSDaa 6–287UCSC3-beta hydroxysteroid dehydrogenase/isomerase family

Gene Aliases

HGNC Name

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

HGNC Alias Symbol

SDR11E2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000198.4
p.D61V
c.182A>T
Surrounding Variants
1 paper
NM_000198.4
p.D61N
c.181G>A
1 paper
NM_000198.4
p.I62_L63insFs
c.186_187insC
1 paper
NM_000198.4
p.L63fs
c.187_188fs
1 paper
NM_000198.4
p.E59G
c.176A>G
1 paper
NM_000198.4
p.L63delFs
c.189delG
1 paper
NM_000198.4
p.E65K
c.193G>A
1 paper
NM_000198.4
p.F67L
c.199T>C
1 paper
NM_000198.4
p.F67_L68delFs
c.201_202delCC
1 paper
NM_000198.4
p.L55_T56delFs
c.163_167del5
1 paper
NM_000198.4
p.K69T
c.206A>C
1 paper
NM_000198.4
p.R52fs
c.154_155fs
2 papers
NM_000198.4
p.R52fs
c.154_155fs
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