Varaico: Literature-Extracted Genetic Variants

Gene:CSTA

CSTA

54 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 A

HGNC Previous Symbols

STF1; STFA

Papers
RefSeq ID
Protein change
DNA change
1–12 of 43 variants
7 papers
NM_005213.4
p.M65L
c.193A>C
7 papers
NM_005213.4
p.M65L
c.193A>T
7 papers
NM_005213.4
p.Q86*
c.256C>T
6 papers
NM_005213.4
p.K22_V23Splc
c.67-2A>T
4 papers
NM_005213.4
p.K22*
c.64A>T
4 papers
NM_005213.4
p.R58*
c.172C>T
3 papers
NM_005213.4
p.G4E
c.11G>A
3 papers
NM_005213.4
p.G4A
c.11G>C
2 papers
NM_005213.4
p.G4R
c.10G>A
2 papers
NM_005213.4
p.G4R
c.10G>C
2 papers
NM_005213.4
p.P11S
c.31C>T
2 papers
NM_005213.4
p.P25S
c.73C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."