Varaico: Literature-Extracted Genetic Variants

Gene:CST11
Variant:p.Q7R

CST11

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 33–124UCSCCystatin domain

Gene Aliases

HGNC Name

cystatin 11

HGNC Previous Symbol

CST8L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_130794.2
p.Q7R
c.20A>G
Surrounding Variants
1 paper
NM_130794.2
p.V34I
c.100G>A
1 paper
NM_130794.2
p.R66S
c.198G>T
1 paper
NM_130794.2
p.R66S
c.198G>C
1 paper
NM_130794.2
p.I67F
c.199A>T
2 papers
NM_130794.2
p.R69*
c.205C>T
1 paper
NM_130794.2
p.R69Q
c.206G>A
1 paper
NM_130794.2
p.V73V
c.219C>T
1 paper
NM_130794.2
p.Q74fs
c.220_221fs
1 paper
NM_130794.2
p.Q76_V77Splc
c.229-7C>A
1 paper
NM_130794.2
p.E82A
c.245A>C
1 paper
NM_130794.2
p.V87L
c.259G>T
1 paper
NM_130794.2
p.V87L
c.259G>C
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