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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ST6GALNAC5

ST6GALNAC5

50 papers

RefSeq Summary

The protein encoded by this gene is a Golgi type II transmembrane glycosyltransferase. The encoded protein catalyzes the transfer of sialic acid to cell surface proteins to modulate cell-cell interact...

Pfam Domains

Glyco_transf_29aa 41–310UCSCGlycosyltransferase family 29 (sialyltransferase)

Gene Aliases

HGNC Name

ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5

HGNC Previous Symbol

SIAT7E

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 78 variants

2 papers

chr1:76868678 A>G

NM_030965.3

p.Q66R

c.197A>G

Glyco_transf_29

Exome: 0.2% (AC=2239, hom=9)Genome: 0.1% (AC=224, hom=0)233 overlapping SVs

2 papers

chr1:77044237 G>A

NM_030965.3

p.V99M

c.295G>A

Glyco_transf_29

Exome: 0.0% (AC=4, hom=0)Genome: n/a232 overlapping SVs

2 papers

chr1:77044323 C>A

NM_030965.3

p.P127P

c.381C>A

Glyco_transf_29

Exome: 2.4% (AC=35405, hom=571)Genome: 2.2% (AC=3294, hom=60)232 overlapping SVs

2 papers

chr1:77044376 C>T

NM_030965.3

p.A145V

c.434C>T

Glyco_transf_29

Exome: 0.0% (AC=22, hom=0)Genome: n/a232 overlapping SVs

2 papers

chr1:77044426 G>A

NM_030965.3

p.V162M

c.484G>A

Glyco_transf_29

Exome: 0.0% (AC=138, hom=1)Genome: 0.0% (AC=29, hom=0)232 overlapping SVs

2 papers

chr1:77044558 C>T

NM_030965.3

p.R206C

c.616C>T

Glyco_transf_29

Exome: 0.0% (AC=27, hom=0)Genome: n/a232 overlapping SVs

2 papers

chr1:77063063 C>T

NM_030965.3

p.R290C

c.868C>T

Glyco_transf_29

Exome: 0.0% (AC=207, hom=0)Genome: 0.0% (AC=10, hom=0)232 overlapping SVs

1 paper

chr1:76868491 C>T

NM_030965.3

p.M5_R6Splc

c.16-6C>T

Exome: 0.1% (AC=1018, hom=3)Genome: 0.1% (AC=106, hom=0)232 overlapping SVs

1 paper

chr1:76868500 C>G

NM_030965.3

p.H7D

c.19C>G

Exome: 0.0% (AC=144, hom=0)Genome: 0.0% (AC=9, hom=0)232 overlapping SVs

1 paper

chr1:76868506 C>T

NM_030965.3

p.L9L

c.25C>T

exact variant not in gnomAD232 overlapping SVs

1 paper

chr1:76868511 AGTGTG>A

NM_030965.3

p.V11_C12delFs

c.31_35del5

exact variant not in gnomAD232 overlapping SVs

1 paper

chr1:76868513 T>A

NM_030965.3

p.V11E

c.32T>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a232 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."