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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ST8SIA2

Variant:p.M9_L10insFs

ST8SIA2

80 papers

RefSeq Summary

The protein encoded by this gene is a type II membrane protein that is thought to catalyze the transfer of sialic acid from CMP-sialic acid to N-linked oligosaccharides and glycoproteins. The encoded ...

Pfam Domains

Glyco_transf_29aa 111–363UCSCGlycosyltransferase family 29 (sialyltransferase)

Gene Aliases

HGNC Name

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

HGNC Previous Symbol

SIAT8B

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr15:92394091 G>GA

NM_006011.4

p.M9_L10insFs

c.27_28insA

exact variant not in gnomAD7 overlapping SVs

Surrounding Variants

1 paper

chr15:92394091 G>T

NM_006011.4

p.M9I

c.27G>T

Exome: 0.0% (AC=665, hom=7)Genome: 0.0% (AC=57, hom=1)7 overlapping SVs

1 paper

chr15:92394141 C>A

NM_006011.4

p.S26*

c.77C>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a7 overlapping SVs

1 paper

chr15:92394145 G>C

NM_006011.4

p.E27D

c.81G>C

exact variant not in gnomAD7 overlapping SVs

1 paper

chr15:92394145 G>T

NM_006011.4

p.E27D

c.81G>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a7 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."