Varaico: Literature-Extracted Genetic Variants

Gene:CTSA
Variant:p.Y249N

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
5 papers
NM_000308.4
p.Y249N
c.745T>A
Surrounding Variants
1 paper
NM_000308.4
p.N251del1
c.751_752delAAC
1 paper
NM_000308.4
p.C246S
c.737G>C
1 paper
NM_000308.4
p.C246S
c.736T>A
1 paper
NM_000308.4
p.D253_L254insFs
c.759_760insGA
1 paper
NM_000308.4
p.L254P
c.761T>C
1 paper
NM_000308.4
p.E255insFs
c.764dupA
1 paper
NM_000308.4
p.C241S
c.722G>C
1 paper
NM_000308.4
p.C241S
c.721T>A
1 paper
NM_000308.4
p.N259_L260Splc
c.777+2T>C
1 paper
NM_000308.4
p.L236P
c.707T>C
1 paper
NM_000308.4
p.N259_L260Splc
c.777+9C>G
1 paper
NM_000308.4
p.L260I
c.778C>A
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