Varaico: Literature-Extracted Genetic Variants

Gene:SOSTDC1
Variant:p.K19I

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.K19I
c.56A>T
Surrounding Variants
2 papers
NM_015464.3
p.L17delFs
c.51delT
1 paper
NM_015464.3
p.M18L
c.52A>T
1 paper
NM_015464.3
p.L17I
c.49C>A
1 paper
NM_015464.3
p.L22F
c.66G>C
1 paper
NM_015464.3
p.I16V
c.46A>G
1 paper
NM_015464.3
p.A23S
c.67G>T
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.F24L
c.72T>A
2 papers
NM_015464.3
p.P12A
c.34C>G
1 paper
NM_015464.3
p.N26_D27insFs
c.78_79insT
3 papers
NM_015464.3
p.D27N
c.79G>A
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