Varaico: Literature-Extracted Genetic Variants

Gene:CST5
Variant:p.Y84*

CST5

25 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 32–128UCSCCystatin domain

Gene Aliases

HGNC Name

cystatin D

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001900.5
p.Y84*
c.252C>G
Surrounding Variants
1 paper
NM_001900.5
p.Y84*
c.252C>A
1 paper
NM_001900.5
p.Y85N
c.253T>A
1 paper
NM_001900.5
p.Y84fs
c.250_251fs
1 paper
NM_001900.5
p.Y85*
c.255C>G
1 paper
NM_001900.5
p.Y85*
c.255C>A
1 paper
NM_001900.5
p.N83I
c.248A>T
1 paper
NM_001900.5
p.N83fs
c.247_248fs
1 paper
NM_001900.5
p.N87D
c.259A>G
1 paper
NM_001900.5
p.V82fs
c.244_245fs
1 paper
NM_001900.5
p.V79fs
c.235_236fs
1 paper
NM_001900.5
p.G91S
c.271G>A
1 paper
NM_001900.5
p.R92*
c.274C>T
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