Varaico: Literature-Extracted Genetic Variants

Gene:POFUT2
Variant:p.K71R

POFUT2

32 papers

RefSeq Summary

Fucose is typically found as a terminal modification of branched chain glycoconjugates, but it also exists in direct O-linkage to serine or threonine residues within cystine knot motifs in epidermal g...

Pfam Domains

O-FucTaa 45–400UCSCGDP-fucose protein O-fucosyltransferase

Gene Aliases

HGNC Name

protein O-fucosyltransferase 2

HGNC Previous Symbol

C21orf80

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_133635.6
p.K71R
c.212A>G
Surrounding Variants
1 paper
NM_133635.6
p.T76A
c.226A>G
2 papers
NM_133635.6
p.E54A
c.161A>C
1 paper
NM_133635.6
p.R101W
c.301C>T
1 paper
NM_133635.6
p.S105Y
c.314C>A
1 paper
NM_133635.6
p.V119V
c.357C>T
1 paper
NM_133635.6
p.Q124H
c.372G>T
1 paper
NM_133635.6
p.Q124H
c.372G>C
1 paper
NM_133635.6
p.E149A
c.446A>C
1 paper
NM_133635.6
p.L206P
c.617T>C
1 paper
NM_133635.6
p.A212G
c.635C>G
1 paper
NM_133635.6
p.R213Q
c.638G>A
1 paper
NM_133635.6
p.R213Q
c.638G>A
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