Varaico: Literature-Extracted Genetic Variants

Gene:CTSA
Variant:p.W65R

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.W65R
c.193T>A
Surrounding Variants
5 papers
NM_000308.4
p.W65R
c.193T>C
1 paper
NM_000308.4
p.Y64S
c.191A>C
1 paper
NM_000308.4
p.W65Splc
c.194+1G>T
1 paper
NM_000308.4
p.K60Q
c.178A>C
1 paper
NM_000308.4
p.L54H
c.161T>A
1 paper
NM_000308.4
p.L54_G56del3
c.160_167del9
1 paper
NM_000308.4
p.G52S
c.154G>A
1 paper
NM_000308.4
p.S51Y
c.152C>A
7 papers
NM_000308.4
p.Q49R
c.146A>G
1 paper
NM_000308.4
p.R48H
c.143G>A
1 paper
NM_000308.4
p.K43N
c.129G>T
2 papers
NM_000308.4
p.Q36_R37del1
c.108_110delGCG
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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."