Varaico: Literature-Extracted Genetic Variants

Gene:CSTB
Variant:p.P79S

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
7 papers
NM_000100.4
p.P79S
c.235C>T
Surrounding Variants
1 paper
NM_000100.4
p.E76K
c.226G>A
1 paper
NM_000100.4
p.H75insFs
c.223_224insC
1 paper
NM_000100.4
p.H75fs
c.223_224fs
5 papers
NM_000100.4
p.P74S
c.220C>T
7 papers
NM_000100.4
p.L73delFs
c.218_219delGA
4 papers
NM_000100.4
p.L73insFs
c.218dupT
1 paper
NM_000100.4
p.L73F
c.217C>T
1 paper
NM_000100.4
p.S72P
c.214T>C
14 papers
NM_000100.4
p.Q71P
c.212A>C
29 papers
NM_000100.4
p.R68*
c.202C>T
2 papers
NM_000100.4
p.V65I
c.193G>A
1 paper
NM_000100.4
p.E62E
c.186G>A
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