Varaico: Literature-Extracted Genetic Variants

Gene:HSDL2
Variant:p.A225A

HSDL2

20 papers

Pfam Domains

adh_shortaa 11–209UCSCshort chain dehydrogenase
SCP2aa 310–412UCSCSCP-2 sterol transfer family

Gene Aliases

HGNC Name

hydroxysteroid dehydrogenase like 2

HGNC Previous Symbol

C9orf99

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032303.5
p.A225A
c.675A>G
Surrounding Variants
1 paper
NM_032303.5
p.I262V
c.784A>G
1 paper
NM_032303.5
p.P278L
c.833C>T
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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."