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

1–12 of 227 variants

69 papers

NM_001099922.3

p.N107S

c.320A>G

15 papers

NM_001099922.3

p.K94E

c.280A>G

9 papers

NM_001099922.3

p.A81T

c.241G>A

9 papers

NM_001099922.3

p.P294S

c.880C>T

8 papers

NM_001099922.3

p.Y1074C

c.3221A>G

6 papers

NM_001099922.3

p.I17N

c.50T>A

6 papers

NM_001099922.3

p.Q547H

c.1641A>C

6 papers

NM_001099922.3

p.Q547H

c.1641A>T

6 papers

NM_001099922.3

p.P934del1

c.2800_2802delCCT

5 papers

NM_001099922.3

p.E69_D70del1

c.207_209delAGA

5 papers

NM_001099922.3

p.E463G

c.1388A>G

4 papers

NM_001099922.3

p.V8A

c.23T>C