Varaico: Literature-Extracted Genetic Variants

Gene:ST6GALNAC5
Variant:p.G172delFs

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030965.3
p.G172delFs
c.515delG
Surrounding Variants
1 paper
NM_030965.3
p.G172fs
c.514_515fs
1 paper
NM_030965.3
p.M177fs
c.529_530fs
1 paper
NM_030965.3
p.Q164H
c.492G>C
1 paper
NM_030965.3
p.Q164H
c.492G>T
1 paper
NM_030965.3
p.R178Q
c.533G>A
1 paper
NM_030965.3
p.R179Q
c.536G>A
2 papers
NM_030965.3
p.V162M
c.484G>A
1 paper
NM_030965.3
p.G183C
c.547G>T
1 paper
NM_030965.3
p.D158E
c.474C>A
1 paper
NM_030965.3
p.D158E
c.474C>G
1 paper
NM_030965.3
p.V185F
c.553G>T
1 paper
NM_030965.3
p.R154H
c.461G>A
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