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

6 papers

NM_001099922.3

p.Q547H

c.1641A>C

Surrounding Variants

6 papers

NM_001099922.3

p.Q547H

c.1641A>T

1 paper

NM_001099922.3

p.R560P

c.1679G>C

1 paper

NM_001099922.3

p.G570E

c.1709G>A

1 paper

NM_001099922.3

p.H513Q

c.1539T>A

1 paper

NM_001099922.3

p.F590C

c.1769T>G

2 papers

NM_001099922.3

p.M600V

c.1798A>G

1 paper

NM_001099922.3

p.G605S

c.1813G>A

1 paper

NM_001099922.3

p.P612S

c.1834C>T

1 paper

NM_001099922.3

p.H620L

c.1859A>T

1 paper

NM_001099922.3

p.T632R

c.1895C>G

1 paper

NM_001099922.3

p.M637T

c.1910T>C

1 paper

NM_001099922.3

p.E640K

c.1918G>A