Varaico: Literature-Extracted Genetic Variants

Gene:GLT6D1
Variant:p.W143delFs

GLT6D1

48 papers

RefSeq Summary

The GT6 glycosyltransferases gene family, which includes the ABO blood group (ABO; MIM 110300) and GLT6D1, shows a complex evolution pattern, with multiple events of gain and loss in different mammal ...

Pfam Domains

Glyco_transf_6aa 13–276UCSCGlycosyltransferase family 6

Gene Aliases

HGNC Name

glycosyltransferase 6 domain containing 1

HGNC Previous Symbol

GLTDC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_182974.3
p.W143delFs
c.427delA
Surrounding Variants
1 paper
NM_182974.3
p.W143*
c.428G>A
7 papers
NM_182974.3
p.W143fs
c.427_428fs
1 paper
NM_182974.3
p.W143*
c.429G>A
1 paper
NM_182974.3
p.W143fs
c.427_428fs
1 paper
NM_182974.3
p.H150Q
c.450T>G
1 paper
NM_182974.3
p.H150Q
c.450T>A
1 paper
NM_182974.3
p.T131M
c.392C>T
1 paper
NM_182974.3
p.R130P
c.389G>C
1 paper
NM_182974.3
p.F119L
c.357C>G
1 paper
NM_182974.3
p.F119L
c.357C>A
1 paper
NM_182974.3
p.F119L
c.355T>C
1 paper
NM_182974.3
p.L169P
c.506T>C
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