Varaico: Literature-Extracted Genetic Variants

Gene:CSTB
Variant:p.Q22Q

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
12 papers
NM_000100.4
p.Q22Q
c.66G>A
Surrounding Variants
2 papers
NM_000100.4
p.Q22*
c.64C>T
1 paper
NM_000100.4
p.D21_Q22insFs
c.63_64ins13
1 paper
NM_000100.4
p.E15E
c.45G>A
1 paper
NM_000100.4
p.P11L
c.32C>T
2 papers
NM_000100.4
p.P11S
c.31C>T
1 paper
NM_000100.4
p.T9S
c.25A>T
1 paper
NM_000100.4
p.A8insFs
c.22dupG
4 papers
NM_000100.4
p.S7Fs
c.21delinsAAFs
1 paper
NM_000100.4
p.S7P
c.19T>C
5 papers
NM_000100.4
p.M1_P6del0
c.1_18del18
2 papers
NM_000100.4
p.P6L
c.17C>T
1 paper
NM_000100.4
p.A5S
c.13G>T
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