Varaico: Literature-Extracted Genetic Variants

Gene:CSTL1
Variant:p.R142K

CSTL1

16 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 30–123UCSCCystatin domain

Gene Aliases

HGNC Name

cystatin like 1

HGNC Alias Symbols

dJ322G13.4; CTES1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138283.1
p.R142K
c.425G>A
Surrounding Variants
1 paper
NM_138283.1
p.Y126H
c.376T>C
2 papers
NM_138283.1
p.L103L
c.309G>C
1 paper
NM_138283.1
p.C101C
c.303C>T
1 paper
NM_138283.1
p.T96M
c.287C>T
1 paper
NM_138283.1
p.W88*
c.264G>A
1 paper
NM_138283.1
p.W88*
c.263G>A
4 papers
NM_138283.1
p.W88R
c.262T>A
5 papers
NM_138283.1
p.W88R
c.262T>C
2 papers
NM_138283.1
p.R66K
c.197G>A
2 papers
NM_138283.1
p.T59A
c.175A>G
1 paper
NM_138283.1
p.Y52C
c.155A>G
1 paper
NM_138283.1
p.F47L
c.141C>A
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