Varaico: Literature-Extracted Genetic Variants

Gene:SOSTDC1
Variant:p.P12A

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
2 papers
NM_015464.3
p.P12A
c.34C>G
Surrounding Variants
1 paper
NM_015464.3
p.L10V
c.28C>G
1 paper
NM_015464.3
p.L10I
c.28C>A
1 paper
NM_015464.3
p.C15S
c.44G>C
1 paper
NM_015464.3
p.C15Y
c.44G>A
1 paper
NM_015464.3
p.H7_F8Fs
c.21_22delinsCFs
1 paper
NM_015464.3
p.I16V
c.46A>G
2 papers
NM_015464.3
p.H7P
c.20A>C
1 paper
NM_015464.3
p.L17I
c.49C>A
1 paper
NM_015464.3
p.M18L
c.52A>T
2 papers
NM_015464.3
p.L17delFs
c.51delT
1 paper
NM_015464.3
p.A5V
c.14C>T
1 paper
NM_015464.3
p.K19I
c.56A>T
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