Varaico: Literature-Extracted Genetic Variants

Gene:SOSTDC1
Variant:p.H7P

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.H7P
c.20A>C
Surrounding Variants
1 paper
NM_015464.3
p.H7_F8Fs
c.21_22delinsCFs
1 paper
NM_015464.3
p.A5V
c.14C>T
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.P4L
c.11C>T
2 papers
NM_015464.3
p.P12A
c.34C>G
1 paper
NM_015464.3
p.L2F
c.4C>T
1 paper
NM_015464.3
p.L2V
c.4C>G
1 paper
NM_015464.3
p.M1I
c.3G>T
1 paper
NM_015464.3
p.M1I
c.3G>C
2 papers
NM_015464.3
p.M1I
c.3G>A
1 paper
NM_015464.3
p.M1R
c.2T>G
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