Varaico: Literature-Extracted Genetic Variants

Gene:SOSTDC1
Variant:p.K121_Y122del2

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.K121_Y122del2
c.361_365del6
Surrounding Variants
1 paper
NM_015464.3
p.R125insFs
c.374dupG
1 paper
NM_015464.3
p.R126T
c.377G>C
1 paper
NM_015464.3
p.G119R
c.355G>C
1 paper
NM_015464.3
p.G119R
c.355G>A
1 paper
NM_015464.3
p.S127R
c.381C>G
1 paper
NM_015464.3
p.Q129L
c.386A>T
1 paper
NM_015464.3
p.G116R
c.346G>A
2 papers
NM_015464.3
p.W131C
c.393G>T
2 papers
NM_015464.3
p.W131C
c.393G>C
2 papers
NM_015464.3
p.R132G
c.394C>G
1 paper
NM_015464.3
p.I114L
c.340A>C
1 paper
NM_015464.3
p.R132L
c.395G>T
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