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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LY6E

LY6E

17 papers

RefSeq Summary

This gene belongs to the human Ly6 gene family and encodes a glycosylphosphatidyl-inositol (GPI)-anchored cell surface protein. The protein plays an important role in T cell physiology, oncogenesis an...

Pfam Domains

UPAR_LY6aa 19–101UCSCu-PAR/Ly-6 domain

Gene Aliases

HGNC Name

lymphocyte antigen 6 family member E

HGNC Alias Symbols

TSA-1; RIG-E; SCA-2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr8:143020941 T>C

NM_002346.3

p.M1T

c.2T>C

exact variant not in gnomAD9 overlapping SVs

1 paper

chr8:143021315 C>CG

NM_002346.3

p.A18_S19insFs

c.54_55insG

UPAR_LY6

exact variant not in gnomAD9 overlapping SVs

1 paper

chr8:143021317 G>A

NM_002346.3

p.S19N

c.56G>A

UPAR_LY6

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=1, hom=0)9 overlapping SVs

1 paper

chr8:143021418 G>A

NM_002346.3

p.A53T

c.157G>A

UPAR_LY6

Exome: 0.0% (AC=1, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr8:143021421 A>ANNN

NM_002346.3

p.S54_A55insG

c.160_164ins3

UPAR_LY6

exact variant not in gnomAD9 overlapping SVs

1 paper

chr8:143021421 A>T

NM_002346.3

p.S54C

c.160A>T

UPAR_LY6

exact variant not in gnomAD9 overlapping SVs

1 paper

chr8:143021703 G>A

NM_002346.3

p.D104N

c.310G>A

Exome: 0.1% (AC=1148, hom=3)Genome: 0.2% (AC=270, hom=5)9 overlapping SVs

1 paper

chr8:143021754 A>G

NM_002346.3

p.S121G

c.361A>G

exact variant not in gnomAD9 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."