Varaico: Literature-Extracted Genetic Variants

Gene:CTSA

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
1–12 of 162 variants
9 papers
NM_000308.4
p.Y395C
c.1184A>G
7 papers
NM_000308.4
p.Q49R
c.146A>G
6 papers
NM_000308.4
p.R231Splc
c.692+3A>G
6 papers
NM_000308.4
p.Y370C
c.1109A>G
5 papers
NM_000308.4
p.W65R
c.193T>A
5 papers
NM_000308.4
p.W65R
c.193T>C
5 papers
NM_000308.4
p.Y249N
c.745T>A
4 papers
NM_000308.4
p.L208P
c.623T>C
3 papers
NM_000308.4
p.S90L
c.269C>T
3 papers
NM_000308.4
p.L91R
c.272T>G
3 papers
NM_000308.4
p.L110Q
c.329T>A
3 papers
NM_000308.4
p.V132M
c.394G>A
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."