Varaico: Literature-Extracted Genetic Variants

Gene:CST3
Variant:p.M1_G3delFs

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.M1_G3delFs
c.3_7del5
Surrounding Variants
2 papers
NM_000099.4
p.G3G
c.9G>A
1 paper
NM_000099.4
p.L5L
c.15G>A
1 paper
NM_000099.4
p.R6S
c.16C>A
1 paper
NM_000099.4
p.R6H
c.17G>A
2 papers
NM_000099.4
p.A2V
c.5C>T
2 papers
NM_000099.4
p.A2T
c.4G>A
1 paper
NM_000099.4
p.G3_A7del5
c.7_20del15
1 paper
NM_000099.4
p.A7insFs
c.20dupC
1 paper
NM_000099.4
p.L9V
c.25C>G
1 paper
NM_000099.4
p.L10V
c.28C>G
1 paper
NM_000099.4
p.L10L
c.30C>G
1 paper
NM_000099.4
p.L11Q
c.32T>A
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