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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLEC16A

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

1–12 of 132 variants

5 papers

chr16:11178473 G>A

NM_015226.3

p.S982N

c.2945G>A

CLEC16A_C

Exome: 0.6% (AC=8709, hom=43)Genome: 0.5% (AC=719, hom=1)2 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

3 papers

chr16:11178538 G>A

NM_015226.3

p.V1004I

c.3010G>A

CLEC16A_C

Exome: 0.0% (AC=174, hom=0)Genome: 0.0% (AC=60, hom=0)2 overlapping SVs

2 papers

chr16:10982953 A>T

NM_015226.3

p.M345L

c.1033A>T

CLEC16A_C

exact variant not in gnomAD2 overlapping SVs

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

2 papers

chr16:11126083 C>T

NM_015226.3

p.R860C

c.2578C>T

CLEC16A_C

Exome: 0.0% (AC=519, hom=0)Genome: 0.0% (AC=46, hom=0)2 overlapping SVs

2 papers

chr16:11178352 G>A

NM_015226.3

p.E942K

c.2824G>A

CLEC16A_C

Exome: 0.0% (AC=528, hom=5)Genome: 0.0% (AC=32, hom=0)2 overlapping SVs

2 papers

chr16:11178625 G>A

NM_015226.3

p.A1033T

c.3097G>A

Exome: 0.3% (AC=3837, hom=13)Genome: 0.2% (AC=344, hom=0)2 overlapping SVs

1 paper

chr16:10944718 A>AN

NM_015226.3

p.M1fs

c.1_2fs

exact variant not in gnomAD5 overlapping SVs

1 paper

chr16:10944718 A>G

NM_015226.3

p.M1V

c.1A>G

Exome: 0.0% (AC=1, hom=0)Genome: n/a5 overlapping SVs

1 paper

chr16:10944720 G>A

NM_015226.3

p.M1I

c.3G>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a5 overlapping SVs

1 paper

chr16:10944720 G>C

NM_015226.3

p.M1I

c.3G>C

exact variant not in gnomAD5 overlapping SVs

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