Varaico: Literature-Extracted Genetic Variants

Gene:CST1

CST1

29 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 32–127UCSCCystatin domain

Gene Aliases

HGNC Name

cystatin SN

Papers
RefSeq ID
Protein change
DNA change
1–12 of 23 variants
3 papers
NM_001898.3
p.V81fs
c.241_242fs
2 papers
NM_001898.3
p.Y4H
c.10T>C
2 papers
NM_001898.3
p.L19L
c.57G>A
2 papers
NM_001898.3
p.G79A
c.236G>C
1 paper
NM_001898.3
p.M1T
c.2T>C
1 paper
NM_001898.3
p.L15V
c.43C>G
1 paper
NM_001898.3
p.E26K
c.76G>A
1 paper
NM_001898.3
p.D27N
c.79G>A
1 paper
NM_001898.3
p.Y35C
c.104A>G
1 paper
NM_001898.3
p.D41N
c.121G>A
1 paper
NM_001898.3
p.R46H
c.137G>A
1 paper
NM_001898.3
p.R69Q
c.206G>A
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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."