Varaico: Literature-Extracted Genetic Variants

Gene:CST4
Variant:p.R66C

CST4

20 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 S

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001899.3
p.R66C
c.196C>T
Surrounding Variants
1 paper
NM_001899.3
p.R66P
c.197G>C
1 paper
NM_001899.3
p.L68Q
c.203T>A
1 paper
NM_001899.3
p.E62D
c.186G>T
1 paper
NM_001899.3
p.E62D
c.186G>C
1 paper
NM_001899.3
p.N40K
c.120T>G
1 paper
NM_001899.3
p.N40K
c.120T>A
1 paper
NM_001899.3
p.A2T
c.4G>A
1 paper
NM_001899.3
p.T77N
c.230C>A
1 paper
NM_001899.3
p.V81insFs
c.241_242insG
2 papers
NM_001899.3
p.V81fs
c.241_242fs
1 paper
NM_001899.3
p.V89V
c.267G>T
1 paper
NM_001899.3
p.R91H
c.272G>A
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