Varaico: Literature-Extracted Genetic Variants

Gene:ALG14
Variant:p.A15V

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.A15V
c.44C>T
Surrounding Variants
1 paper
NM_144988.4
p.V16G
c.47T>G
5 papers
NM_144988.4
p.A11T
c.31G>A
1 paper
NM_144988.4
p.A10D
c.29C>A
1 paper
NM_144988.4
p.R27H
c.80G>A
1 paper
NM_144988.4
p.V2L
c.4G>T
1 paper
NM_144988.4
p.E35delFs
c.103delC
1 paper
NM_144988.4
p.E35fs
c.103_104fs
5 papers
NM_144988.4
p.S38I
c.113G>T
4 papers
NM_144988.4
p.G46Splc
c.136+1G>C
1 paper
NM_144988.4
p.G46Splc
c.136+2T>C
1 paper
NM_144988.4
p.L55L
c.165G>A
1 paper
NM_144988.4
p.N61S
c.182A>G
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