Varaico: Literature-Extracted Genetic Variants

Gene:HSDL2
Variant:p.Y139H

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.Y139H
c.415T>C
Surrounding Variants
1 paper
NM_032303.5
p.P138A
c.412C>G
1 paper
NM_032303.5
p.I170fs
c.508_509fs
1 paper
NM_032303.5
p.I170_A171delFs
c.510_513del4
1 paper
NM_032303.5
p.A132V
c.395C>T
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