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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ST8SIA5

ST8SIA5

25 papers

RefSeq Summary

The protein encoded by this gene is a type II membrane protein that may be present in the Golgi apparatus. The encoded protein, which is a member of glycosyltransferase family 29, may be involved in t...

Pfam Domains

Glyco_transf_29aa 87–334UCSCGlycosyltransferase family 29 (sialyltransferase)

Gene Aliases

HGNC Name

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5

HGNC Previous Symbol

SIAT8E

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 19 variants

2 papers

chr18:46686187 C>A

NM_013305.6

p.D186Y

c.556G>T

Glyco_transf_29

Exome: 0.0% (AC=1, hom=0)Genome: n/a13 overlapping SVs

1 paper

chr18:46756489 G>A

NM_013305.6

p.S7L

c.20C>T

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=1, hom=0)15 overlapping SVs

1 paper

chr18:46756418 A>C

NM_013305.6

p.L31V

c.91T>G

exact variant not in gnomAD15 overlapping SVs

1 paper

chr18:46688912 G>C

NM_013305.6

p.L107V

c.319C>G

exact variant not in gnomAD14 overlapping SVs

1 paper

chr18:46688910 C>T

NM_013305.6

p.L107L

c.321G>A

Exome: 0.0% (AC=2, hom=0)Genome: n/a14 overlapping SVs

1 paper

chr18:46688909 A>T

NM_013305.6

p.S108T

c.322T>A

Exome: 0.0% (AC=107, hom=1)Genome: 0.1% (AC=140, hom=0)14 overlapping SVs

1 paper

chr18:46688789 G>A

NM_013305.6

p.R148C

c.442C>T

Glyco_transf_29

Exome: 0.1% (AC=1115, hom=0)Genome: 0.0% (AC=69, hom=0)14 overlapping SVs

1 paper

chr18:46686235 C>G

NM_013305.6

p.G170R

c.508G>C

Glyco_transf_29

exact variant not in gnomAD13 overlapping SVs

1 paper

chr18:46686235 C>T

NM_013305.6

p.G170R

c.508G>A

Glyco_transf_29

Exome: 0.0% (AC=24, hom=0)Genome: 0.0% (AC=1, hom=0)13 overlapping SVs

1 paper

chr18:46686208 C>G

NM_013305.6

p.G179R

c.535G>C

Glyco_transf_29

Exome: 0.0% (AC=7, hom=0)Genome: n/a13 overlapping SVs

1 paper

chr18:46686208 C>T

NM_013305.6

p.G179R

c.535G>A

Glyco_transf_29

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=3, hom=0)13 overlapping SVs

1 paper

chr18:46686190 C>T

NM_013305.6

p.A185T

c.553G>A

Glyco_transf_29

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=2, hom=0)13 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."