Varaico: Literature-Extracted Genetic Variants

Gene:SOSTDC1
Variant:p.L50W

SOSTDC1

289 papers

RefSeq Summary

This gene is a member of the sclerostin family and encodes an N-glycosylated, secreted protein with a C-terminal cystine knot-like domain. This protein functions as a bone morphogenetic protein (BMP) ...

Pfam Domains

Sclerostinaa 6–206UCSCSclerostin (SOST)

Gene Aliases

HGNC Name

sclerostin domain containing 1

HGNC Alias Symbols

DKFZp564D206; USAG1; DAND7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015464.3
p.L50W
c.149T>G
Surrounding Variants
1 paper
NM_015464.3
p.L50*
c.149T>A
1 paper
NM_015464.3
p.L50F
c.150G>T
1 paper
NM_015464.3
p.L50F
c.150G>C
1 paper
NM_015464.3
p.N51I
c.152A>T
1 paper
NM_015464.3
p.S48R
c.144C>A
7 papers
NM_015464.3
p.A53T
c.157G>A
1 paper
NM_015464.3
p.R54R
c.162A>G
1 paper
NM_015464.3
p.R54S
c.162A>C
1 paper
NM_015464.3
p.N55I
c.164A>T
1 paper
NM_015464.3
p.S45fs
c.133_134fs
1 paper
NM_015464.3
p.P44R
c.131C>G
1 paper
NM_015464.3
p.R58W
c.172A>T
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