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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLEC2D

Variant:p.G51A

CLEC2D

23 papers

RefSeq Summary

This gene encodes a member of the natural killer cell receptor C-type lectin family. The encoded protein inhibits osteoclast formation and contains a transmembrane domain near the N-terminus as well a...

Pfam Domains

Lectin_Caa 92–186UCSCLectin C-type domain

Gene Aliases

HGNC Name

C-type lectin domain family 2 member D

HGNC Alias Symbols

LLT1; CLAX; OCIL

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr12:9681013 G>C

NM_013269.6

p.G51A

c.152G>C

exact variant not in gnomAD12 overlapping SVs

Surrounding Variants

1 paper

chr12:9681008 G>A

NM_013269.6

p.V49V

c.147G>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a12 overlapping SVs

1 paper

chr12:9681032 C>T

NM_013269.6

p.S57S

c.171C>T

Exome: 45.7% (AC=600745, hom=138651)Genome: 49.5% (AC=75198, hom=18862)12 overlapping SVs

4 papers

chr12:9680928 C>G

NM_013269.6

p.L23V

c.67C>G

Exome: 31.4% (AC=424126, hom=68740)Genome: 27.9% (AC=42467, hom=6558)12 overlapping SVs

1 paper

chr12:9688011 G>A

NM_013269.6

p.K94K

c.282G>A

Lectin_C

exact variant not in gnomAD13 overlapping SVs

1 paper

chr12:9688043 C>T

NM_013269.6

p.S105L

c.314C>T

Lectin_C

exact variant not in gnomAD13 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."