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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLEC16A

Variant:p.G906E

CLEC16A

104 papers

RefSeq Summary

This gene encodes a member of the C-type lectin domain containing family. Single nucleotide polymorphisms in introns of this gene have been associated with diabetes mellitus, multiple sclerosis and rh...

Pfam Domains

FPLaa 51–198UCSCUncharacterised conserved protein

CLEC16A_Caa 243–1020UCSCCLEC16A C-terminal

Gene Aliases

HGNC Name

C-type lectin domain containing 16A

HGNC Previous Symbol

KIAA0350

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr16:11166463 G>A

NM_015226.3

p.G906E

c.2717G>A

CLEC16A_C

Exome: 0.0% (AC=311, hom=3)Genome: 0.0% (AC=27, hom=0)2 overlapping SVs

Surrounding Variants

1 paper

chr16:11166479 C>T

NM_015226.3

p.S911S

c.2733C>T

CLEC16A_C

Exome: 0.0% (AC=5, hom=0)Genome: n/a2 overlapping SVs

3 papers

chr16:11166421 G>A

NM_015226.3

p.S892N

c.2675G>A

CLEC16A_C

Exome: 0.4% (AC=5186, hom=13)Genome: 0.2% (AC=260, hom=0)2 overlapping SVs

1 paper

chr16:11166396 G>A

NM_015226.3

p.V884M

c.2650G>A

CLEC16A_C

Exome: 0.0% (AC=31, hom=0)Genome: 0.0% (AC=6, hom=0)2 overlapping SVs

1 paper

chr16:11166393 G>A

NM_015226.3

p.A883T

c.2647G>A

CLEC16A_C

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=3, hom=0)2 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."