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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ST8SIA1

Variant:p.P47H

ST8SIA1

25 papers

RefSeq Summary

Gangliosides are membrane-bound glycosphingolipids containing sialic acid. Ganglioside GD3 is known to be important for cell adhesion and growth of cultured malignant cells. The protein encoded by thi...

Pfam Domains

Glyco_transf_29aa 93–339UCSCGlycosyltransferase family 29 (sialyltransferase)

Gene Aliases

HGNC Name

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1

HGNC Previous Symbols

SIAT8; SIAT8A

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr12:22334093 G>T

NM_003034.4

p.P47H

c.140C>A

exact variant not in gnomAD13 overlapping SVs

Surrounding Variants

2 papers

chr12:22334115 G>A

NM_003034.4

p.L40F

c.118C>T

Exome: 0.0% (AC=28, hom=0)Genome: 0.0% (AC=5, hom=0)13 overlapping SVs

1 paper

chr12:22334121 C>T

NM_003034.4

p.V38M

c.112G>A

exact variant not in gnomAD13 overlapping SVs

1 paper

chr12:22334026 C>CG

NM_003034.4

p.R69_R70insFs

c.207_208insC

exact variant not in gnomAD13 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."