Varaico: Literature-Extracted Genetic Variants

Gene:CST5
Variant:p.E54A

CST5

25 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 32–128UCSCCystatin domain

Gene Aliases

HGNC Name

cystatin D

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001900.5
p.E54A
c.161A>C
Surrounding Variants
1 paper
NM_001900.5
p.E54delins
c.160_161delinsTC
1 paper
NM_001900.5
p.E54*
c.160G>T
1 paper
NM_001900.5
p.I59N
c.176T>A
1 paper
NM_001900.5
p.C46Y
c.137G>A
4 papers
NM_001900.5
p.C46R
c.136T>C
1 paper
NM_001900.5
p.S66N
c.197G>A
2 papers
NM_001900.5
p.A25T
c.73G>A
1 paper
NM_001900.5
p.M2I
c.6G>C
1 paper
NM_001900.5
p.V79fs
c.235_236fs
1 paper
NM_001900.5
p.V82fs
c.244_245fs
1 paper
NM_001900.5
p.N83fs
c.247_248fs
1 paper
NM_001900.5
p.N83I
c.248A>T
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