Varaico: Literature-Extracted Genetic Variants

Gene:CSTB
Variant:p.G4A

CSTB

134 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 4–92UCSCCystatin domain

Gene Aliases

HGNC Name

cystatin B

HGNC Previous Symbols

EPM1; STFB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000100.4
p.G4A
c.11G>C
Surrounding Variants
3 papers
NM_000100.4
p.G4E
c.11G>A
3 papers
NM_000100.4
p.G4W
c.10G>T
24 papers
NM_000100.4
p.G4R
c.10G>C
22 papers
NM_000100.4
p.G4R
c.10G>A
1 paper
NM_000100.4
p.A5S
c.13G>T
4 papers
NM_000100.4
p.C3S
c.8G>C
4 papers
NM_000100.4
p.C3S
c.7T>A
1 paper
NM_000100.4
p.M2I
c.6G>C
2 papers
NM_000100.4
p.P6L
c.17C>T
1 paper
NM_000100.4
p.S7P
c.19T>C
5 papers
NM_000100.4
p.M1_P6del0
c.1_18del18
1 paper
NM_000100.4
p.M1insFs
c.1_2insAT
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