Varaico: Literature-Extracted Genetic Variants

Gene:CST3
Variant:p.F89L

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.F89L
c.267C>A
Surrounding Variants
1 paper
NM_000099.4
p.F89L
c.267C>G
1 paper
NM_000099.4
p.F89L
c.265T>C
3 papers
NM_000099.4
p.Y88*
c.264C>G
3 papers
NM_000099.4
p.Y88*
c.264C>A
2 papers
NM_000099.4
p.D91fs
c.271_272fs
1 paper
NM_000099.4
p.D91delFs
c.271delC
4 papers
NM_000099.4
p.E93*
c.277G>T
1 paper
NM_000099.4
p.E93fs
c.277_278fs
1 paper
NM_000099.4
p.E93fs
c.277_278fs
1 paper
NM_000099.4
p.G85E
c.254G>A
8 papers
NM_000099.4
p.L94Q
c.281T>A
4 papers
NM_000099.4
p.G85R
c.253G>C
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