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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NSG2

Variant:p.Q53H

NSG2

5q35.2 (UCSC)OMIM GTEx

22 papers

Pfam Domains

Calcyonaa 1–170UCSCD1 dopamine receptor-interacting protein (calcyon)

Gene Aliases

HGNC Name

neuronal vesicle trafficking associated 2

HGNC Alias Symbols

HMP19; CALY3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr5:174064261 G>C

NM_015980.5

p.Q53H

c.159G>C

exact variant not in gnomAD10 overlapping SVs

Surrounding Variants

chr5:174064261 G>T

NM_015980.5

p.Q53H

c.159G>T

exact variant not in gnomAD10 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."