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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ST6GALNAC5

Variant:p.P334T

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

Selected Variant

1 paper

chr1:77063195 C>A

NM_030965.3

p.P334T

c.1000C>A

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

Surrounding Variants

1 paper

chr1:77063204 T>C

NM_030965.3

p.*337Q

c.1009T>C

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

1 paper

chr1:77063110 G>C

NM_030965.3

p.K305N

c.915G>C

Glyco_transf_29

exact variant not in gnomAD232 overlapping SVs

1 paper

chr1:77063110 G>T

NM_030965.3

p.K305N

c.915G>T

Glyco_transf_29

exact variant not in gnomAD232 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

chr1:77063046 T>C

NM_030965.3

p.L284P

c.851T>C

Glyco_transf_29

exact variant not in gnomAD232 overlapping SVs

1 paper

chr1:77062976 G>C

NM_030965.3

p.D261H

c.781G>C

Glyco_transf_29

exact variant not in gnomAD232 overlapping SVs

1 paper

chr1:77062961 A>G

NM_030965.3

p.R260Splc

c.780-14A>G

Exome: 0.0% (AC=3, hom=0)Genome: n/a232 overlapping SVs

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