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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BST1

BST1

79 papers

RefSeq Summary

Bone marrow stromal cell antigen-1 is a stromal cell line-derived glycosylphosphatidylinositol-anchored molecule that facilitates pre-B-cell growth. The deduced amino acid sequence exhibits 33% simila...

Pfam Domains

Rib_hydrolayseaa 40–280UCSCADP-ribosyl cyclase

Gene Aliases

HGNC Name

bone marrow stromal cell antigen 1

HGNC Alias Symbols

CD157; BST-1; cADPR2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 47 variants

8 papers

chr4:15707629 G>A

NM_004334.3

p.R145Q

c.434G>A

Rib_hydrolayse

Exome: 3.6% (AC=53246, hom=1995)Genome: 3.9% (AC=5979, hom=229)32 overlapping SVs

6 papers

chr4:15707569 G>A

NM_004334.3

p.R125H

c.374G>A

Rib_hydrolayse

Exome: 11.7% (AC=170701, hom=10601)Genome: 9.0% (AC=13693, hom=775)32 overlapping SVs

5 papers

chr4:15703251 G>C

NM_004334.3

p.G36A

c.107G>C

Exome: 1.7% (AC=24081, hom=1405)Genome: 2.6% (AC=4000, hom=178)33 overlapping SVs

4 papers

chr4:15722897 G>A

NM_004334.3

p.V272M

c.814G>A

Rib_hydrolayse

Exome: 0.1% (AC=2156, hom=8)Genome: 0.2% (AC=234, hom=0)31 overlapping SVs

2 papers

chr4:15705579 G>A

NM_004334.3

p.V85M

c.253G>A

Rib_hydrolayse

Exome: 0.0% (AC=264, hom=1)Genome: 0.0% (AC=15, hom=0)32 overlapping SVs

2 papers

chr4:15705627 A>G

NM_004334.3

p.I101V

c.301A>G

Rib_hydrolayse

Exome: 0.3% (AC=4385, hom=204)Genome: 2.6% (AC=4014, hom=181)32 overlapping SVs

2 papers

chr4:15707565 C>T

NM_004334.3

p.R124C

c.370C>T

Rib_hydrolayse

Exome: 0.0% (AC=659, hom=5)Genome: 0.1% (AC=91, hom=2)32 overlapping SVs

2 papers

chr4:15715762 G>A

NM_004334.3

p.E223K

c.667G>A

Rib_hydrolayse

Exome: 0.0% (AC=7, hom=0)Genome: n/a31 overlapping SVs

1 paper

chr4:15703151 G>T

NM_004334.3

p.A3S

c.7G>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a33 overlapping SVs

1 paper

chr4:15703166 G>A

NM_004334.3

p.A8T

c.22G>A

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)33 overlapping SVs

1 paper

chr4:15703224 C>T

NM_004334.3

p.A27V

c.80C>T

Exome: 0.0% (AC=45, hom=0)Genome: 0.0% (AC=8, hom=0)33 overlapping SVs

1 paper

chr4:15703227 G>C

NM_004334.3

p.G28A

c.83G>C

exact variant not in gnomAD33 overlapping SVs

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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."