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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CSTL1

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 18 variants

5 papers

chr20:23443976 T>C

NM_138283.1

p.W88R

c.262T>C

Cystatin

Exome: 51.3% (AC=749646, hom=196011)Genome: 59.2% (AC=90075, hom=28176)12 overlapping SVs

4 papers

chr20:23443976 T>A

NM_138283.1

p.W88R

c.262T>A

Cystatin

exact variant not in gnomAD12 overlapping SVs

2 papers

chr20:23440442 A>G

NM_138283.1

p.T59A

c.175A>G

Cystatin

Exome: 2.3% (AC=33907, hom=880)Genome: 3.7% (AC=5618, hom=178)12 overlapping SVs

2 papers

chr20:23440464 G>A

NM_138283.1

p.R66K

c.197G>A

Cystatin

Exome: 8.5% (AC=123997, hom=6354)Genome: 7.5% (AC=11449, hom=646)12 overlapping SVs

2 papers

chr20:23444023 G>C

NM_138283.1

p.L103L

c.309G>C

Cystatin

Exome: 5.6% (AC=81910, hom=4857)Genome: 15.1% (AC=22990, hom=3704)12 overlapping SVs

1 paper

chr20:23440277 G>A

NM_138283.1

p.G4R

c.10G>A

Exome: 0.0% (AC=108, hom=1)Genome: 0.1% (AC=90, hom=2)12 overlapping SVs

1 paper

chr20:23440277 G>C

NM_138283.1

p.G4R

c.10G>C

exact variant not in gnomAD12 overlapping SVs

1 paper

chr20:23440285 G>A

NM_138283.1

p.W6*

c.18G>A

Exome: 0.0% (AC=2, hom=0)Genome: n/a12 overlapping SVs

1 paper

chr20:23440293 C>T

NM_138283.1

p.P9L

c.26C>T

exact variant not in gnomAD12 overlapping SVs

1 paper

chr20:23440408 C>A

NM_138283.1

p.F47L

c.141C>A

Cystatin

exact variant not in gnomAD12 overlapping SVs

1 paper

chr20:23440408 C>T

NM_138283.1

p.F47F

c.141C>T

Cystatin

exact variant not in gnomAD12 overlapping SVs

1 paper

chr20:23440422 A>G

NM_138283.1

p.Y52C

c.155A>G

Cystatin

Exome: 0.0% (AC=26, hom=0)Genome: 0.0% (AC=34, hom=0)12 overlapping SVs

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