Varaico: Literature-Extracted Genetic Variants

Gene:CTSA
Variant:p.G268_N269insC

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.G268_N269insC
c.802_806ins3
Surrounding Variants
1 paper
NM_000308.4
p.G271S
c.811G>A
1 paper
NM_000308.4
p.L260H
c.779T>A
1 paper
NM_000308.4
p.L260I
c.778C>A
1 paper
NM_000308.4
p.Y278F
c.833A>T
1 paper
NM_000308.4
p.P280S
c.838C>T
1 paper
NM_000308.4
p.P286P
c.858C>T
1 paper
NM_000308.4
p.V296delFs
c.886_887delGT
2 papers
NM_000308.4
p.V296del1
c.886_887delGTT
2 papers
NM_000308.4
p.V297M
c.889G>A
1 paper
NM_000308.4
p.Q299*
c.895C>T
2 papers
NM_000308.4
p.Q299insFs
c.896_897insC
1 paper
NM_000308.4
p.D300E
c.900T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."