Varaico: Literature-Extracted Genetic Variants

Gene:CTSA
Variant:p.P330insFs

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.P330insFs
c.990dupC
Surrounding Variants
1 paper
NM_000308.4
p.D328fs
c.982_983fs
1 paper
NM_000308.4
p.P330A
c.988C>G
1 paper
NM_000308.4
p.C331fs
c.991_992fs
1 paper
NM_000308.4
p.L318Q
c.953T>A
1 paper
NM_000308.4
p.N343H
c.1027A>C
1 paper
NM_000308.4
p.V346M
c.1036G>A
1 paper
NM_000308.4
p.R347W
c.1039C>T
1 paper
NM_000308.4
p.N351K
c.1053C>G
1 paper
NM_000308.4
p.E354K
c.1060G>A
1 paper
NM_000308.4
p.Q358P
c.1073A>C
1 paper
NM_000308.4
p.Q316*
c.946C>T
1 paper
NM_000308.4
p.R312G
c.934C>G
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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."