Varaico: Literature-Extracted Genetic Variants

Gene:CSTB
Variant:p.K56K

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
6 papers
NM_000100.4
p.K56K
c.168G>A
Surrounding Variants
2 papers
NM_000100.4
p.K56_V57Splc
c.168+1G>A
2 papers
NM_000100.4
p.Y53C
c.158A>G
14 papers
NM_000100.4
p.G50E
c.149G>A
1 paper
NM_000100.4
p.A49V
c.146C>T
1 paper
NM_000100.4
p.V47V
c.141G>A
3 papers
NM_000100.4
p.Q46*
c.136C>T
1 paper
NM_000100.4
p.K44_S45del1
c.132_134delCTC
1 paper
NM_000100.4
p.S45I
c.134G>T
2 papers
NM_000100.4
p.S42*
c.125C>G
2 papers
NM_000100.4
p.S42*
c.125C>A
1 paper
NM_000100.4
p.P36P
c.108T>C
2 papers
NM_000100.4
p.P36S
c.106C>T
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