Varaico: Literature-Extracted Genetic Variants

Gene:CLEC16A
Variant:p.D234Y

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001243403.2
p.D234Y
c.700G>T
Surrounding Variants
1 paper
NM_015226.3
p.E233K
c.697G>A
1 paper
NM_015226.3
p.R212*
c.634C>T
1 paper
NM_015226.3
p.V190I
c.568G>A
1 paper
NM_015226.3
p.V186fs
c.556_557fs
1 paper
NM_015226.3
p.V186delFs
c.557delT
1 paper
NM_015226.3
p.S150L
c.449C>T
1 paper
NM_015226.3
p.I143V
c.427A>G
1 paper
NM_015226.3
p.Y141fs
c.421_422fs
1 paper
NM_015226.3
p.Y141delFs
c.421delT
1 paper
NM_015226.3
p.H129D
c.385C>G
1 paper
NM_015226.3
p.Y116F
c.347A>T
1 paper
NM_015226.3
p.R247_G248delFs
c.739_743del5
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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."