Varaico: Literature-Extracted Genetic Variants

Gene:CTSA
Variant:p.M1L

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.M1L
c.1A>T
Surrounding Variants
1 paper
NM_000308.4
p.M1L
c.1A>C
1 paper
NM_000308.4
p.M1I
c.3G>A
1 paper
NM_000308.4
p.M1I
c.3G>C
1 paper
NM_000308.4
p.M1_I2insFs
c.3_4insT
1 paper
NM_000308.4
p.M1I
c.3G>T
1 paper
NM_000308.4
p.I2S
c.5T>G
1 paper
NM_000308.4
p.A4delFs
c.11delC
1 paper
NM_000308.4
p.P6_P7delFs
c.18_19delGC
2 papers
NM_000308.4
p.F10delFs
c.29delT
2 papers
NM_000308.4
p.L18_L19del1
c.54_56delGCT
1 paper
NM_000308.4
p.L12_L13delFs
c.36_37delGC
1 paper
NM_000308.4
p.L16delFs
c.48delG
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