Varaico: Literature-Extracted Genetic Variants

Gene:CST8
Variant:p.V38I

CST8

12 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 34–128UCSCCystatin domain

Gene Aliases

HGNC Name

cystatin 8

HGNC Alias Symbols

CRES; CTES5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005492.4
p.V38I
c.112G>A
Surrounding Variants
1 paper
NM_005492.4
p.T13T
c.39C>G
1 paper
NM_005492.4
p.R5W
c.13C>T
1 paper
NM_005492.4
p.N80I
c.239A>T
1 paper
NM_005492.4
p.L81V
c.241C>G
2 papers
NM_005492.4
p.Y84*
c.252C>A
2 papers
NM_005492.4
p.Y84*
c.252C>G
1 paper
NM_005492.4
p.L85F
c.253C>T
1 paper
NM_005492.4
p.Q108*
c.322C>T
1 paper
NM_005492.4
p.R115_K116Splc
c.345+10G>T
1 paper
NM_005492.4
p.A125E
c.374C>A
1 paper
NM_005492.4
p.W128R
c.382T>A
1 paper
NM_005492.4
p.W128R
c.382T>C
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