Varaico: Literature-Extracted Genetic Variants

Gene:CTHRC1
Variant:p.S133*

CTHRC1

24 papers

RefSeq Summary

This locus encodes a protein that may play a role in the cellular response to arterial injury through involvement in vascular remodeling. Mutations at this locus have been associated with Barrett esop...

Pfam Domains

Collagenaa 53–94UCSCCollagen triple helix repeat (20 copies)
CTHRC1_Caa 101–238UCSCCTHRC1, C-terminal domain

Gene Aliases

HGNC Name

collagen triple helix repeat containing 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138455.4
p.S133*
c.398C>A
Surrounding Variants
1 paper
NM_138455.4
p.S133*
c.398C>G
1 paper
NM_138455.4
p.C149R
c.445T>C
1 paper
NM_138455.4
p.R150S
c.450A>C
1 paper
NM_138455.4
p.R150S
c.450A>T
1 paper
NM_138455.4
p.R156C
c.466C>T
1 paper
NM_138455.4
p.G163R
c.487G>A
1 paper
NM_138455.4
p.G163R
c.487G>C
1 paper
NM_138455.4
p.P183L
c.548C>T
1 paper
NM_138455.4
p.A124_E125Splc
c.372+259A>G
1 paper
NM_138455.4
p.Y106*
c.318C>G
1 paper
NM_138455.4
p.R83W
c.247C>T
1 paper
NM_138455.4
p.P69S
c.205C>T
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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."