Varaico: Literature-Extracted Genetic Variants

Gene:CTSA
Variant:p.F440V

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.F440V
c.1318T>G
Surrounding Variants
3 papers
NM_000308.4
p.G439S
c.1315G>A
1 paper
NM_000308.4
p.I437delFs
c.1309delA
1 paper
NM_000308.4
p.Q436R
c.1307A>G
1 paper
NM_000308.4
p.E435G
c.1304A>G
1 paper
NM_000308.4
p.H446N
c.1336C>A
1 paper
NM_001167594.3
p.Y413C
c.1238A>G
2 papers
NM_000308.4
p.V428delFs
c.1284delG
2 papers
NM_000308.4
p.K453E
c.1357A>G
1 paper
NM_000308.4
p.P425_V428del4
c.1273_1283del12
1 paper
NM_001167594.3
p.R406C
c.1216C>T
1 paper
NM_000308.4
p.Q422H
c.1266G>C
1 paper
NM_000308.4
p.Q422H
c.1266G>T
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