Varaico: Literature-Extracted Genetic Variants

Gene:CST6
Variant:p.L22P

CST6

22 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 36–135UCSCCystatin domain

Gene Aliases

HGNC Name

cystatin E/M

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001323.4
p.L22P
c.65T>C
Surrounding Variants
1 paper
NM_001323.4
p.A26V
c.77C>T
1 paper
NM_001323.4
p.L14P
c.41T>C
1 paper
NM_001323.4
p.L14delFs
c.42delG
1 paper
NM_001323.4
p.L14L
c.40C>T
1 paper
NM_001323.4
p.G11G
c.33C>T
1 paper
NM_001323.4
p.M34T
c.101T>C
1 paper
NM_001323.4
p.Q53E
c.157C>G
2 papers
NM_001323.4
p.A54S
c.160G>T
2 papers
NM_001323.4
p.G84D
c.251G>A
1 paper
NM_001323.4
p.G84V
c.251G>T
1 paper
NM_001323.4
p.T90S
c.268A>T
1 paper
NM_001323.4
p.H107Q
c.321C>A
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