Varaico: Literature-Extracted Genetic Variants

Gene:CTSA
Variant:p.N113Y

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
1 paper
NM_000308.4
p.N113Y
c.337A>T
Surrounding Variants
1 paper
NM_000308.4
p.N113I
c.338A>T
3 papers
NM_000308.4
p.L110Q
c.329T>A
1 paper
NM_000308.4
p.V108_L110del3
c.322_329del9
1 paper
NM_000308.4
p.P105insFs
c.315dupA
1 paper
NM_000308.4
p.I120T
c.359T>C
1 paper
NM_000308.4
p.L124F
c.372A>C
1 paper
NM_000308.4
p.L124F
c.372A>T
1 paper
NM_000308.4
p.A130insFs
c.388_389insA
3 papers
NM_000308.4
p.V132M
c.394G>A
1 paper
NM_000308.4
p.F134C
c.401T>G
1 paper
NM_000308.4
p.K140delFs
c.419delA
1 paper
NM_000308.4
p.Y142_A143delFs
c.424_428del5
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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."