Varaico: Literature-Extracted Genetic Variants

Gene:HSDL2

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
1–12 of 15 variants
1 paper
NM_032303.5
p.A18T
c.52G>A
1 paper
NM_032303.5
p.A44P
c.130G>C
1 paper
NM_032303.5
p.H47R
c.140A>G
1 paper
NM_032303.5
p.A84T
c.250G>A
1 paper
NM_032303.5
p.A132V
c.395C>T
1 paper
NM_032303.5
p.P138A
c.412C>G
1 paper
NM_032303.5
p.Y139H
c.415T>C
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.A225A
c.675A>G
1 paper
NM_032303.5
p.I262V
c.784A>G
1 paper
NM_032303.5
p.P278L
c.833C>T
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