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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LYZL6

LYZL6

9 papers

RefSeq Summary

This gene encodes a member of the C-type lysozyme/alpha-lactalbumin family. C-type lysozymes are bacteriolytic factors that play a role in host defense, whereas alpha-lactalbumins mediate lactose bios...

Pfam Domains

Lysaa 20–145UCSCC-type lysozyme/alpha-lactalbumin family

Gene Aliases

HGNC Name

lysozyme like 6

HGNC Alias Symbols

LYC1; PRO1485; TKAL754

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr17:35937770 C>T

NM_020426.4

p.V96I

c.286G>A

Lys

Exome: 0.1% (AC=760, hom=0)Genome: 0.1% (AC=92, hom=0)14 overlapping SVs

1 paper

chr17:35939346 G>A

NM_020426.4

p.A4V

c.11C>T

Exome: 0.0% (AC=90, hom=0)Genome: 0.0% (AC=31, hom=0)15 overlapping SVs

1 paper

chr17:35937858 T>C

NM_020426.4

p.A66A

c.198A>G

Lys

Exome: 9.1% (AC=132423, hom=6656)Genome: 7.5% (AC=11452, hom=559)15 overlapping SVs

1 paper

chr17:35937820 C>T

NM_020426.4

p.S79N

c.236G>A

Lys

exact variant not in gnomAD14 overlapping SVs

1 paper

chr17:35937787 G>A

NM_020426.4

p.S90L

c.269C>T

Lys

Exome: 0.0% (AC=33, hom=0)Genome: 0.0% (AC=5, hom=0)14 overlapping SVs

1 paper

chr17:35934854 C>T

NM_020426.4

p.R130K

c.389G>A

Lys

Exome: 0.0% (AC=14, hom=0)Genome: n/a16 overlapping SVs

1 paper

chr17:35934827 A>G

NM_020426.4

p.F139S

c.416T>C

Lys

Exome: 16.0% (AC=233762, hom=19765)Genome: 16.6% (AC=25200, hom=2258)16 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."