Varaico: Literature-Extracted Genetic Variants

Gene:ST8SIA4
Variant:p.K276Q

ST8SIA4

62 papers

RefSeq Summary

The protein encoded by this gene catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid, a modulator of the adhesive properties of neural cell adh...

Pfam Domains

Glyco_transf_29aa 96–348UCSCGlycosyltransferase family 29 (sialyltransferase)

Gene Aliases

HGNC Name

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4

HGNC Previous Symbol

SIAT8D

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005668.6
p.K276Q
c.826A>C
Surrounding Variants
1 paper
NM_005668.6
p.R277G
c.829A>G
1 paper
NM_005668.6
p.R277I
c.830G>T
1 paper
NM_005668.6
p.K272I
c.815A>T
1 paper
NM_005668.6
p.G281S
c.841G>A
1 paper
NM_005668.6
p.L282I
c.844C>A
1 paper
NM_005668.6
p.M284T
c.851T>C
2 papers
NM_005668.6
p.C292insFs
c.874_875insG
1 paper
NM_005668.6
p.F300S
c.899T>C
1 paper
NM_005668.6
p.P302L
c.905C>T
1 paper
NM_005668.6
p.Y317Y
c.951T>C
1 paper
NM_005668.6
p.Y324Y
c.972C>T
1 paper
NM_005668.6
p.M333L
c.997A>T
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