Varaico: Literature-Extracted Genetic Variants

Gene:CST3
Variant:p.L19L

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.L19L
c.57G>A
Surrounding Variants
1 paper
NM_000099.4
p.L19P
c.56T>C
2 papers
NM_000099.4
p.A20V
c.59C>T
1 paper
NM_000099.4
p.V21E
c.62T>A
1 paper
NM_000099.4
p.V21V
c.63G>A
1 paper
NM_000099.4
p.P23T
c.67C>A
1 paper
NM_000099.4
p.P23_A24insFs
c.69_70insG
1 paper
NM_000099.4
p.A24E
c.71C>A
1 paper
NM_000099.4
p.A24Fs
c.70_72delinsAFs
1 paper
NM_000099.4
p.I14M
c.42C>G
2 papers
NM_000099.4
p.A25S
c.73G>T
2 papers
NM_000099.4
p.A25P
c.73G>C
54 papers
NM_000099.4
p.A25T
c.73G>A
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