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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ST6GALNAC4

ST6GALNAC4

20 papers

RefSeq Summary

The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein prefers glycoprot...

Pfam Domains

Glyco_transf_29aa 54–290UCSCGlycosyltransferase family 29 (sialyltransferase)

Gene Aliases

HGNC Name

ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4

HGNC Previous Symbol

SIAT7D

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 19 variants

1 paper

chr9:127914833 G>A

NM_175039.4

p.L7L

c.21C>T

Exome: 0.8% (AC=11422, hom=695)Genome: 1.3% (AC=1955, hom=114)10 overlapping SVs

1 paper

chr9:127914826 GAT>N

NM_175039.4

p.I10fs

c.28_29fs

exact variant not in gnomAD10 overlapping SVs

1 paper

chr9:127914763 G>A

NM_175039.4

p.P31S

c.91C>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr9:127914736 G>A

NM_175039.4

p.H40Y

c.118C>T

Exome: 0.0% (AC=582, hom=8)Genome: 0.0% (AC=39, hom=0)10 overlapping SVs

1 paper

chr9:127914668 C>T

NM_175039.4

p.V62V

c.186G>A

Glyco_transf_29

exact variant not in gnomAD10 overlapping SVs

1 paper

chr9:127912654 G>T

NM_175039.4

p.S75R

c.225C>A

Glyco_transf_29

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)10 overlapping SVs

1 paper

chr9:127912541 G>A

NM_175039.4

p.A113V

c.338C>T

Glyco_transf_29

Exome: 0.0% (AC=8, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr9:127912515 G>A

NM_175039.4

p.R122C

c.364C>T

Glyco_transf_29

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=1, hom=0)10 overlapping SVs

1 paper

chr9:127912505 G>A

NM_175039.4

p.S125L

c.374C>T

Glyco_transf_29

exact variant not in gnomAD10 overlapping SVs

1 paper

chr9:127912449 G>A

NM_175039.4

p.R144*

c.430C>T

Glyco_transf_29

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=1, hom=0)10 overlapping SVs

1 paper

chr9:127912403 C>T

NM_175039.4

p.R159Q

c.476G>A

Glyco_transf_29

Exome: 0.0% (AC=34, hom=0)Genome: 0.0% (AC=6, hom=0)10 overlapping SVs

1 paper

chr9:127912279 C>T

NM_175039.4

p.T200T

c.600G>A

Glyco_transf_29

Exome: 0.0% (AC=41, hom=0)Genome: 0.0% (AC=1, hom=0)10 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."