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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ST8SIA1

Variant:p.M94V

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

chr12:22287250 T>C

NM_003034.4

p.M94V

c.280A>G

Glyco_transf_29

Exome: 0.1% (AC=1554, hom=1)Genome: 0.1% (AC=104, hom=1)14 overlapping SVs

Surrounding Variants

1 paper

chr12:22287236 A>G

NM_003034.4

p.N98N

c.294T>C

Glyco_transf_29

Exome: 0.3% (AC=4753, hom=11)Genome: 0.3% (AC=382, hom=1)14 overlapping SVs

1 paper

chr12:22287211 A>G

NM_003034.4

p.Y107H

c.319T>C

Glyco_transf_29

exact variant not in gnomAD14 overlapping SVs

1 paper

chr12:22287171 G>A

NM_003034.4

p.S120L

c.359C>T

Glyco_transf_29

exact variant not in gnomAD14 overlapping SVs

1 paper

chr12:22286381 T>G

NM_003034.4

p.Q127_A128Splc

c.381+768A>C

exact variant not in gnomAD14 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."