Varaico: Literature-Extracted Genetic Variants

Gene:CST2
Variant:p.R46C

CST2

19 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 32–127UCSCCystatin domain

Gene Aliases

HGNC Name

cystatin SA

HGNC Alias Name

cystatin 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001322.3
p.R46C
c.136C>T
Surrounding Variants
1 paper
NM_001322.3
p.E31K
c.91G>A
1 paper
NM_001322.3
p.R66C
c.196C>T
1 paper
NM_001322.3
p.Q24fs
c.70_71fs
1 paper
NM_001322.3
p.Q24delFs
c.70delG
1 paper
NM_001322.3
p.R69W
c.205C>T
1 paper
NM_001322.3
p.G79V
c.236G>T
1 paper
NM_001322.3
p.G79D
c.236G>A
2 papers
NM_001322.3
p.I87V
c.259A>G
1 paper
NM_001322.3
p.E88V
c.263A>T
1 paper
NM_001322.3
p.Q98*
c.292C>T
1 paper
NM_001322.3
p.F106S
c.317T>C
1 paper
NM_001322.3
p.E124K
c.370G>A
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