Varaico: Literature-Extracted Genetic Variants

Gene:SOSTDC1
Variant:p.S80P

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.S80P
c.238T>C
Surrounding Variants
1 paper
NM_015464.3
p.K82insFs
c.244_245insG
1 paper
NM_015464.3
p.E77V
c.230A>T
1 paper
NM_015464.3
p.E77A
c.230A>C
1 paper
NM_015464.3
p.Y83insFs
c.247_248insC
1 paper
NM_015464.3
p.Y83H
c.247T>C
1 paper
NM_015464.3
p.R76Q
c.227G>A
2 papers
NM_015464.3
p.G74C
c.220G>T
1 paper
NM_015464.3
p.T90I
c.269C>T
1 paper
NM_015464.3
p.T90N
c.269C>A
1 paper
NM_015464.3
p.T69I
c.206C>T
2 papers
NM_015464.3
p.T69Splc
c.206-1G>T
1 paper
NM_015464.3
p.T69Splc
c.206-1G>A
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