Varaico: Literature-Extracted Genetic Variants

Gene:CST3
Variant:p.H69_S70insG

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.H69_S70insG
c.205_209ins3
Surrounding Variants
1 paper
NM_000099.4
p.H69fs
c.205_206fs
1 paper
NM_000099.4
p.S70fs
c.208_209fs
1 paper
NM_000099.4
p.S70R
c.210C>G
1 paper
NM_000099.4
p.R71G
c.211C>G
1 paper
NM_000099.4
p.R71H
c.212G>A
1 paper
NM_000099.4
p.Q74*
c.220C>T
1 paper
NM_000099.4
p.S64G
c.190A>G
1 paper
NM_000099.4
p.V75M
c.223G>A
1 paper
NM_000099.4
p.E59A
c.176A>C
1 paper
NM_000099.4
p.E59fs
c.175_176fs
2 papers
NM_000099.4
p.R79S
c.235C>A
1 paper
NM_000099.4
p.R79L
c.236G>T
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