Varaico: Literature-Extracted Genetic Variants

Gene:CST9L
Variant:p.N118D

CST9L

18 papers

RefSeq Summary

The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquir...

Pfam Domains

Cystatinaa 39–131UCSCCystatin domain

Gene Aliases

HGNC Name

cystatin 9 like

HGNC Alias Symbols

bA218C14.1; CTES7B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_080610.3
p.N118D
c.352A>G
Surrounding Variants
3 papers
NM_080610.3
p.H109P
c.326A>C
2 papers
NM_080610.3
p.T96fs
c.286_287fs
2 papers
NM_080610.3
p.T96delFs
c.287delG
3 papers
NM_080610.3
p.V86I
c.256G>A
1 paper
NM_080610.3
p.N118_T119Splc
c.355-122C>T
1 paper
NM_080610.3
p.W131L
c.392G>T
1 paper
NM_080610.3
p.C142R
c.424T>C
1 paper
NM_080610.3
p.Q61K
c.181C>A
1 paper
NM_080610.3
p.L25L
c.73C>T
1 paper
NM_080610.3
p.S21Y
c.62C>A
1 paper
NM_080610.3
p.A13V
c.38C>T
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