Varaico: Literature-Extracted Genetic Variants

Gene:CST3
Variant:p.G30S

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
2 papers
NM_000099.4
p.G30S
c.88G>A
Surrounding Variants
1 paper
NM_000099.4
p.G30D
c.89G>A
1 paper
NM_000099.4
p.P29P
c.87C>T
1 paper
NM_000099.4
p.P29P
c.87C>A
1 paper
NM_000099.4
p.K31N
c.93G>C
1 paper
NM_000099.4
p.K31K
c.93G>A
1 paper
NM_000099.4
p.P32S
c.94C>T
1 paper
NM_000099.4
p.P32T
c.94C>A
1 paper
NM_000099.4
p.P32L
c.95C>T
1 paper
NM_000099.4
p.S27S
c.81C>T
1 paper
NM_000099.4
p.P32Q
c.95C>A
1 paper
NM_000099.4
p.P33T
c.97C>A
2 papers
NM_000099.4
p.G26R
c.76G>C
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