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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLEC16A

Variant:p.T475M

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

2 papers

chr16:11020313 C>T

NM_015226.3

p.T475M

c.1424C>T

CLEC16A_C

Exome: 0.1% (AC=1939, hom=10)Genome: 0.2% (AC=320, hom=3)6 overlapping SVs

Surrounding Variants

1 paper

chr16:11020291 G>A

NM_015226.3

p.A468T

c.1402G>A

CLEC16A_C

Exome: 0.0% (AC=23, hom=0)Genome: 0.0% (AC=1, hom=0)6 overlapping SVs

1 paper

chr16:11020229 C>A

NM_015226.3

p.S447*

c.1340C>A

CLEC16A_C

exact variant not in gnomAD6 overlapping SVs

1 paper

chr16:11020229 C>G

NM_015226.3

p.S447*

c.1340C>G

CLEC16A_C

Exome: 0.0% (AC=1, hom=0)Genome: n/a6 overlapping SVs

1 paper

chr16:11024824 C>T

NM_015226.3

p.P480P

c.1440C>T

CLEC16A_C

exact variant not in gnomAD6 overlapping SVs

1 paper

chr16:11024839 G>A

NM_015226.3

p.V485V

c.1455G>A

CLEC16A_C

Exome: 0.0% (AC=0, hom=0)Genome: n/a6 overlapping SVs

1 paper

chr16:11024856 G>A

NM_015226.3

p.S491N

c.1472G>A

CLEC16A_C

exact variant not in gnomAD6 overlapping SVs

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