Varaico: Literature-Extracted Genetic Variants

Gene:SCP2D1
Variant:p.S137I

SCP2D1

18 papers

Pfam Domains

SCP2aa 48–151UCSCSCP-2 sterol transfer family

Gene Aliases

HGNC Name

SCP2 sterol binding domain containing 1

HGNC Previous Symbol

C20orf79

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_178483.3
p.S137I
c.410G>T
Surrounding Variants
1 paper
NM_178483.3
p.V136L
c.406G>C
1 paper
NM_178483.3
p.V136L
c.406G>T
1 paper
NM_178483.3
p.A131A
c.393C>T
1 paper
NM_178483.3
p.E147G
c.440A>G
1 paper
NM_178483.3
p.P125L
c.374C>T
1 paper
NM_178483.3
p.R101G
c.301A>G
1 paper
NM_178483.3
p.P99S
c.295C>T
1 paper
NM_178483.3
p.S92F
c.275C>T
2 papers
NM_178483.3
p.T85T
c.255C>T
1 paper
NM_178483.3
p.T80T
c.240C>T
1 paper
NM_178483.3
p.N77Y
c.229A>T
1 paper
NM_178483.3
p.V66A
c.197T>C
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