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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LY6G5B

Variant:p.C47Y

LY6G5B

12 papers

RefSeq Summary

LY6G5B belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain ...

Pfam Domains

UPAR_LY6aa 24–107UCSCu-PAR/Ly-6 domain

Gene Aliases

HGNC Name

lymphocyte antigen 6 family member G5B

HGNC Previous Symbol

C6orf19

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr6:31671237 G>A

NM_021221.3

p.C47Y

c.140G>A

UPAR_LY6

Exome: 0.0% (AC=17, hom=0)Genome: 0.0% (AC=2, hom=0)59 overlapping SVs

Surrounding Variants

1 paper

chr6:31672037 G>T

NM_021221.3

p.D121Y

c.361G>T

exact variant not in gnomAD58 overlapping SVs

1 paper

chr6:31672136 GAG>N

NM_021221.3

p.E154fs

c.460_461fs

exact variant not in gnomAD58 overlapping SVs

3 papers

chr6:31672202 C>T

NM_021221.3

p.R176C

c.526C>T

Exome: 6.7% (AC=98325, hom=3729)Genome: 7.8% (AC=11889, hom=513)58 overlapping SVs

1 paper

chr6:31672208 A>G

NM_021221.3

p.M178V

c.532A>G

Exome: 0.0% (AC=4, hom=0)Genome: n/a58 overlapping SVs

1 paper

chr6:31672238 T>G

NM_021221.3

p.L188V

c.562T>G

Exome: 0.0% (AC=229, hom=3)Genome: 0.2% (AC=300, hom=1)58 overlapping SVs

1 paper

chr6:31672244 C>T

NM_021221.3

p.L190F

c.568C>T

Exome: 0.0% (AC=21, hom=0)Genome: 0.0% (AC=7, hom=0)58 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."