Varaico: Literature-Extracted Genetic Variants

Gene:CST3
Variant:p.C109Y

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.C109Y
c.326G>A
Surrounding Variants
1 paper
NM_000099.4
p.P110L
c.329C>T
1 paper
NM_000099.4
p.H112R
c.335A>G
3 papers
NM_000099.4
p.Q114*
c.340C>T
1 paper
NM_000099.4
p.Q114L
c.341A>T
1 paper
NM_000099.4
p.P104S
c.310C>T
2 papers
NM_000099.4
p.P115L
c.344C>T
1 paper
NM_000099.4
p.K101N
c.303G>T
1 paper
NM_000099.4
p.K101N
c.303G>C
1 paper
NM_000099.4
p.T100fs
c.298_299fs
1 paper
NM_000099.4
p.E93_C99delFs
c.277_296del20
1 paper
NM_000099.4
p.R119fs
c.355_356fs
1 paper
NM_000099.4
p.R119G
c.355A>G
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