Varaico: Literature-Extracted Genetic Variants

Gene:CST3
Variant:p.V49V

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.V49V
c.147G>A
Surrounding Variants
1 paper
NM_000099.4
p.V49A
c.146T>C
1 paper
NM_000099.4
p.V49E
c.146T>A
1 paper
NM_000099.4
p.R51P
c.152G>C
1 paper
NM_000099.4
p.L53R
c.158T>G
1 paper
NM_000099.4
p.V44V
c.132G>A
1 paper
NM_000099.4
p.S43C
c.127A>T
2 papers
NM_000099.4
p.V57F
c.169G>T
3 papers
NM_000099.4
p.V57G
c.170T>G
6 papers
NM_000099.4
p.V57D
c.170T>A
1 paper
NM_000099.4
p.A42P
c.124G>C
1 paper
NM_000099.4
p.D41G
c.122A>G
2 papers
NM_000099.4
p.G58V
c.173G>T
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