Varaico: Literature-Extracted Genetic Variants

Gene:CTSA
Variant:p.N216Y

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.N216Y
c.646A>T
Surrounding Variants
1 paper
NM_000308.4
p.S217delFs
c.649delT
1 paper
NM_000308.4
p.S217P
c.649T>C
1 paper
NM_000308.4
p.S217A
c.649T>G
1 paper
NM_000308.4
p.S217F
c.650C>T
2 papers
NM_000308.4
p.N214insFs
c.641_642insT
1 paper
NM_000308.4
p.L218L
c.654G>A
1 paper
NM_000308.4
p.A222V
c.665C>T
4 papers
NM_000308.4
p.L208P
c.623T>C
1 paper
NM_000308.4
p.L208F
c.622C>T
2 papers
NM_000308.4
p.G201E
c.602G>A
1 paper
NM_000308.4
p.R231G
c.691A>G
1 paper
NM_000308.4
p.G201R
c.601G>A
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