Varaico: Literature-Extracted Genetic Variants

Gene:FUT2
Variant:p.E135K

FUT2

338 papers

RefSeq Summary

This gene is one of two encoding the galactoside 2-L-fucosyltransferase enzyme. The encoded protein is important for the final step in the soluble ABO blood group antigen synthesis pathway. It is also...

Pfam Domains

Glyco_transf_11aa 21–334UCSCGlycosyl transferase family 11

Gene Aliases

HGNC Name

fucosyltransferase 2

HGNC Previous Symbol

SE

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000511.6
p.E135K
c.403G>A
Surrounding Variants
6 papers
NM_000511.6
p.E134K
c.400G>A
1 paper
NM_000511.6
p.E136E
c.408A>G
1 paper
NM_000511.6
p.W132*
c.395G>A
7 papers
NM_000511.6
p.R138C
c.412C>T
2 papers
NM_000511.6
p.N130K
c.390C>A
2 papers
NM_000511.6
p.N130K
c.390C>G
11 papers
NM_000511.6
p.N130N
c.390C>T
17 papers
NM_000511.6
p.I140F
c.418A>T
1 paper
NM_000511.6
p.L129V
c.385C>G
2 papers
NM_000511.6
p.L129L
c.385C>T
1 paper
NM_000511.6
p.E143delins
c.427_429delinsCGC
2 papers
NM_000511.6
p.E143G
c.428A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."