Varaico: Literature-Extracted Genetic Variants

Gene:CST3

CST3

203 papers

RefSeq Summary

The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquir...

Pfam Domains

Cystatinaa 37–132UCSCCystatin domain

Gene Aliases

HGNC Name

cystatin C

HGNC Previous Name

cystatin C (amyloid angiopathy and cerebral hemorrhage)

Papers
RefSeq ID
Protein change
DNA change
1–12 of 145 variants
54 papers
NM_000099.4
p.A25T
c.73G>A
8 papers
NM_000099.4
p.L94Q
c.281T>A
6 papers
NM_000099.4
p.V57D
c.170T>A
4 papers
NM_000099.4
p.G85R
c.253G>C
4 papers
NM_000099.4
p.E93*
c.277G>T
3 papers
NM_000099.4
p.V57G
c.170T>G
3 papers
NM_000099.4
p.G85R
c.253G>A
3 papers
NM_000099.4
p.Y88*
c.264C>G
3 papers
NM_000099.4
p.Y88*
c.264C>A
3 papers
NM_000099.4
p.Q114*
c.340C>T
2 papers
NM_000099.4
p.A2T
c.4G>A
2 papers
NM_000099.4
p.A2V
c.5C>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."