Varaico: Literature-Extracted Genetic Variants

Gene:CTSA
Variant:p.S89R

CTSA

198 papers

RefSeq Summary

This gene encodes a member of the peptidase S10 family of serine carboxypeptidases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is ...

Pfam Domains

Peptidase_S10aa 39–477UCSCSerine carboxypeptidase

Gene Aliases

HGNC Name

cathepsin A

HGNC Previous Symbols

GSL; PPGB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000308.4
p.S89R
c.265A>C
Surrounding Variants
2 papers
NM_000308.4
p.S89R
c.267C>A
2 papers
NM_000308.4
p.S89R
c.267C>G
1 paper
NM_000308.4
p.C88S
c.263G>C
1 paper
NM_000308.4
p.S90insFs
c.268_269insC
3 papers
NM_000308.4
p.S90L
c.269C>T
3 papers
NM_000308.4
p.L91R
c.272T>G
1 paper
NM_000308.4
p.G85_G87del3
c.253_260del9
2 papers
NM_000308.4
p.G99delFs
c.296delG
1 paper
NM_000308.4
p.P77R
c.230C>G
1 paper
NM_000308.4
p.S76R
c.228C>A
1 paper
NM_000308.4
p.P77delFs
c.229delC
2 papers
NM_000308.4
p.S69Y
c.206C>A
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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."