Varaico: Literature-Extracted Genetic Variants

Gene:CTSA
Variant:p.Y370C

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
6 papers
NM_000308.4
p.Y370C
c.1109A>G
Surrounding Variants
1 paper
NM_000308.4
p.L368I
c.1102T>A
1 paper
NM_000308.4
p.F364C
c.1091T>G
1 paper
NM_000308.4
p.M377I
c.1131G>T
1 paper
NM_000308.4
p.Q388_K389insA
c.1162_1166ins3
1 paper
NM_000308.4
p.L393P
c.1178T>C
9 papers
NM_000308.4
p.Y395C
c.1184A>G
1 paper
NM_000308.4
p.V399_D400ins0
c.1195_1200dup6
1 paper
NM_000308.4
p.C403delFs
c.1209delC
2 papers
NM_000308.4
p.M406T
c.1217T>C
1 paper
NM_000308.4
p.F411V
c.1231T>G
1 paper
NM_000308.4
p.K418R
c.1253A>G
1 paper
NM_000308.4
p.E420*
c.1258G>T
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