Varaico: Literature-Extracted Genetic Variants

Gene:CST3
Variant:p.L9V

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
Selected Variant
1 paper
NM_000099.4
p.L9V
c.25C>G
Surrounding Variants
1 paper
NM_000099.4
p.A7insFs
c.20dupC
1 paper
NM_000099.4
p.L10V
c.28C>G
1 paper
NM_000099.4
p.G3_A7del5
c.7_20del15
1 paper
NM_000099.4
p.L10L
c.30C>G
1 paper
NM_000099.4
p.L11Q
c.32T>A
1 paper
NM_000099.4
p.R6H
c.17G>A
1 paper
NM_000099.4
p.R6S
c.16C>A
1 paper
NM_000099.4
p.L12P
c.35T>C
1 paper
NM_000099.4
p.L5L
c.15G>A
1 paper
NM_000099.4
p.A13S
c.37G>T
1 paper
NM_000099.4
p.A13P
c.37G>C
1 paper
NM_000099.4
p.M1_G3delFs
c.3_7del5
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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."