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.F5L

c.13T>C

Surrounding Variants

1 paper

NM_001099922.3

p.F5L

c.15T>A

1 paper

NM_001099922.3

p.F5L

c.15T>G

1 paper

NM_001099922.3

p.T7I

c.20C>T

4 papers

NM_001099922.3

p.V8A

c.23T>C

1 paper

NM_001099922.3

p.F13C

c.38T>G

6 papers

NM_001099922.3

p.I17N

c.50T>A

1 paper

NM_001099922.3

p.A18insFs

c.52_53insT

1 paper

NM_001099922.3

p.V20A

c.59T>C

1 paper

NM_001099922.3

p.S21A

c.61T>G

1 paper

NM_001099922.3

p.S25N

c.74G>A

4 papers

NM_001099922.3

p.Q27H

c.81A>T

1 paper

NM_001099922.3

p.K28I

c.83A>T