Varaico: Literature-Extracted Genetic Variants

Gene:ST8SIA4
Variant:p.V230A

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
1 paper
NM_005668.6
p.V230A
c.689T>C
Surrounding Variants
1 paper
NM_005668.6
p.G232insFs
c.694_695insC
1 paper
NM_005668.6
p.G232insFs
c.695_696insC
1 paper
NM_005668.6
p.A227D
c.680C>A
1 paper
NM_005668.6
p.P226L
c.677C>T
1 paper
NM_005668.6
p.P226A
c.676C>G
1 paper
NM_005668.6
p.W224*
c.672G>A
1 paper
NM_005668.6
p.W224*
c.671G>A
1 paper
NM_005668.6
p.L223P
c.668T>C
1 paper
NM_005668.6
p.L223I
c.667C>A
1 paper
NM_005668.6
p.V222A
c.665T>C
1 paper
NM_005668.6
p.S221N
c.662G>A
1 paper
NM_005668.6
p.N219D
c.655A>G
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