Varaico: Literature-Extracted Genetic Variants

ALG13

210 papers

RefSeq Summary

The protein encoded by this gene is a subunit of a bipartite UDP-N-acetylglucosamine transferase. It heterodimerizes with asparagine-linked glycosylation 14 homolog to form a functional UDP-GlcNAc gly...

Pfam Domains

Glyco_tran_28_Caa 3–131UCSCGlycosyltransferase family 28 C-terminal domain

Glyco_tran_28_Caa 3–133UCSCGlycosyltransferase family 28 C-terminal domain

OTUaa 237–347UCSCOTU-like cysteine protease

Gene Aliases

HGNC Name

ALG13 UDP-N-acetylglucosaminyltransferase subunit

HGNC Previous Symbols

GLT28D1; CXorf45

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001099922.3

p.N311delFs

c.933delT

Surrounding Variants

1 paper

NM_001099922.3

p.R312R

c.936G>T

1 paper

NM_001099922.3

p.L308P

c.923T>C

1 paper

NM_001099922.3

p.L308L

c.922C>T

1 paper

NM_001099922.3

p.S297C

c.889A>T

9 papers

NM_001099922.3

p.P294S

c.880C>T

1 paper

NM_001099922.3

p.D293H

c.877G>C

1 paper

NM_001099922.3

p.G292R

c.874G>A

1 paper

NM_001099922.3

p.G292R

c.874G>C

1 paper

NM_001099922.3

p.L288V

c.862C>G

1 paper

NM_001099922.3

p.G282E

c.845G>A

1 paper

NM_001099922.3

p.E277K

c.829G>A

1 paper

NM_001099922.3

p.S343fs

c.1027_1028fs