Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ST8SIA1

Variant:p.R154C

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

chr12:22255311 G>A

NM_003034.4

p.R154C

c.460C>T

Glyco_transf_29

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)13 overlapping SVs

Surrounding Variants

1 paper

chr12:22255316 C>T

NM_003034.4

p.C152Y

c.455G>A

Glyco_transf_29

exact variant not in gnomAD13 overlapping SVs

1 paper

chr12:22255347 C>G

NM_003034.4

p.G142R

c.424G>C

Glyco_transf_29

exact variant not in gnomAD13 overlapping SVs

1 paper

chr12:22255347 C>T

NM_003034.4

p.G142R

c.424G>A

Glyco_transf_29

exact variant not in gnomAD13 overlapping SVs

1 paper

chr12:22249092 A>C

NM_003034.4

p.N166K

c.498T>G

Glyco_transf_29

exact variant not in gnomAD13 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."