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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:VPREB3

Variant:p.Y114*

VPREB3

10 papers

RefSeq Summary

The protein encoded by this gene is the human ortholog of the mouse VpreB3 (8HS20) protein, is thought to be involved in B-cell maturation, and may play a role in assembly of the pre-B cell receptor (...

Pfam Domains

V-setaa 26–123UCSCImmunoglobulin V-set domain

Gene Aliases

HGNC Name

V-set pre-B cell surrogate light chain 3

HGNC Alias Symbol

8HS20

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr22:23752906 G>C

NM_013378.3

p.Y114*

c.342C>G

V-set

exact variant not in gnomAD7 overlapping SVs

Surrounding Variants

1 paper

chr22:23752906 G>T

NM_013378.3

p.Y114*

c.342C>A

V-set

exact variant not in gnomAD7 overlapping SVs

1 paper

chr22:23752898 A>T

NM_013378.3

p.V117D

c.350T>A

V-set

exact variant not in gnomAD7 overlapping SVs

1 paper

chr22:23753014 G>A

NM_013378.3

p.H78H

c.234C>T

V-set

Exome: 0.0% (AC=31, hom=0)Genome: 0.0% (AC=4, hom=0)7 overlapping SVs

1 paper

chr22:23753017 G>A

NM_013378.3

p.H77H

c.231C>T

V-set

Exome: 0.0% (AC=31, hom=0)Genome: 0.0% (AC=4, hom=0)7 overlapping SVs

1 paper

chr22:23753033 C>T

NM_013378.3

p.R72H

c.215G>A

V-set

Exome: 0.0% (AC=32, hom=0)Genome: 0.0% (AC=13, hom=0)7 overlapping SVs

1 paper

chr22:23753034 G>A

NM_013378.3

p.R72C

c.214C>T

V-set

Exome: 0.4% (AC=6379, hom=21)Genome: 0.3% (AC=440, hom=0)7 overlapping SVs

1 paper

chr22:23753126 G>A

NM_013378.3

p.T41M

c.122C>T

V-set

Exome: 0.0% (AC=68, hom=0)Genome: 0.0% (AC=11, hom=0)7 overlapping SVs

1 paper

chr22:23753150 C>T

NM_013378.3

p.G33D

c.98G>A

V-set

Exome: 0.0% (AC=335, hom=6)Genome: 0.0% (AC=61, hom=1)7 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."