Varaico: Literature-Extracted Genetic Variants

Gene:SOSTDC1
Variant:p.Q171Q

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.Q171Q
c.513G>A
Surrounding Variants
1 paper
NM_015464.3
p.Q171*
c.511C>T
1 paper
NM_015464.3
p.E174K
c.520G>A
1 paper
NM_015464.3
p.T169S
c.506C>G
1 paper
NM_015464.3
p.T169S
c.505A>T
1 paper
NM_015464.3
p.K166R
c.497A>G
1 paper
NM_015464.3
p.K166Q
c.496A>C
1 paper
NM_015464.3
p.H177Q
c.531C>G
1 paper
NM_015464.3
p.H177Q
c.531C>A
1 paper
NM_015464.3
p.C163W
c.489C>G
1 paper
NM_015464.3
p.C163*
c.489C>A
1 paper
NM_015464.3
p.E180insFs
c.538_539ins7
1 paper
NM_015464.3
p.S181N
c.542G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."