Varaico: Literature-Extracted Genetic Variants

Gene:ST8SIA6
Variant:p.F254L

ST8SIA6

37 papers

RefSeq Summary

This gene encodes a member of the glycosyltransferase 29 protein family. Members of this protein family synthesize sialylglycoconjugates. Sialylation may contribute to multidrug resistance in cancer c...

Pfam Domains

Glyco_transf_29aa 139–387UCSCGlycosyltransferase family 29 (sialyltransferase)

Gene Aliases

HGNC Name

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6

HGNC Previous Symbol

SIAT8F

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001004470.3
p.F254L
c.760T>C
Surrounding Variants
1 paper
NM_001004470.3
p.F254L
c.762T>G
1 paper
NM_001004470.3
p.F254L
c.762T>A
1 paper
NM_001004470.3
p.F254_L255delins
c.762_763delinsAT
1 paper
NM_001004470.3
p.A252fs
c.754_755fs
2 papers
NM_001004470.3
p.A252fs
c.754_755fs
1 paper
NM_001004470.3
p.K250Q
c.748A>C
1 paper
NM_001004470.3
p.L267R
c.800T>G
1 paper
NM_001004470.3
p.Y284C
c.851A>G
1 paper
NM_001004470.3
p.T286M
c.857C>T
1 paper
NM_001004470.3
p.E288K
c.862G>A
1 paper
NM_001004470.3
p.H300Y
c.898C>T
1 paper
NM_001004470.3
p.T317N
c.950C>A
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