Varaico: Literature-Extracted Genetic Variants

Gene:SOSTDC1
Variant:p.S198delFs

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
3 papers
NM_015464.3
p.S198delFs
c.592delT
Surrounding Variants
3 papers
NM_015464.3
p.S198fs
c.592_593fs
1 paper
NM_015464.3
p.S198fs
c.592_593fs
1 paper
NM_015464.3
p.S198R
c.592A>C
1 paper
NM_015464.3
p.K199R
c.596A>G
1 paper
NM_015464.3
p.A197P
c.589G>C
1 paper
NM_015464.3
p.R196*
c.586A>T
1 paper
NM_015464.3
p.R194L
c.581G>T
2 papers
NM_015464.3
p.R194Q
c.581G>A
1 paper
NM_015464.3
p.R194W
c.580C>T
1 paper
NM_015464.3
p.S204C
c.610A>T
1 paper
NM_015464.3
p.S204T
c.611G>C
1 paper
NM_015464.3
p.S206R
c.616A>C
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