Varaico: Literature-Extracted Genetic Variants

Gene:ALG14
Variant:p.Y68*

ALG14

56 papers

RefSeq Summary

This gene is a member of the glycosyltransferase 1 family. The encoded protein and ALG13 are thought to be subunits of UDP-GlcNAc transferase, which catalyzes the first two committed steps in endoplas...

Pfam Domains

Alg14aa 39–215UCSCOligosaccharide biosynthesis protein Alg14 like

Gene Aliases

HGNC Name

ALG14 UDP-N-acetylglucosaminyltransferase subunit

HGNC Alias Symbol

MGC19780

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_144988.4
p.Y68*
c.204T>A
Surrounding Variants
9 papers
NM_144988.4
p.P65L
c.194C>T
7 papers
NM_144988.4
p.D74N
c.220G>A
1 paper
NM_144988.4
p.N61S
c.182A>G
1 paper
NM_144988.4
p.A78T
c.232G>A
1 paper
NM_144988.4
p.L55L
c.165G>A
1 paper
NM_144988.4
p.E85K
c.253G>A
1 paper
NM_144988.4
p.R88*
c.262C>T
2 papers
NM_144988.4
p.S94G
c.280A>G
1 paper
NM_144988.4
p.N95T
c.284A>C
1 paper
NM_144988.4
p.G46Splc
c.136+2T>C
4 papers
NM_144988.4
p.G46Splc
c.136+1G>C
5 papers
NM_144988.4
p.S38I
c.113G>T
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