Varaico: Literature-Extracted Genetic Variants

Gene:CTSA
Variant:p.K43N

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.K43N
c.129G>T
Surrounding Variants
1 paper
NM_000308.4
p.R48H
c.143G>A
7 papers
NM_000308.4
p.Q49R
c.146A>G
2 papers
NM_000308.4
p.Q36_R37del1
c.108_110delGCG
1 paper
NM_000308.4
p.S51Y
c.152C>A
1 paper
NM_000308.4
p.G52S
c.154G>A
1 paper
NM_000308.4
p.Q36_R37del2
c.106_110del6
1 paper
NM_000308.4
p.I35_Q36delFs
c.104_108del5
1 paper
NM_000308.4
p.E34delFs
c.102delG
1 paper
NM_000308.4
p.L54_G56del3
c.160_167del9
1 paper
NM_000308.4
p.L54H
c.161T>A
1 paper
NM_000308.4
p.D31_D33del3
c.91_98del9
2 papers
NM_000308.4
p.A29del1
c.85_87delGCC
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