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.E479K

c.1435G>A

Surrounding Variants

1 paper

NM_001099922.3

p.E479*

c.1435G>T

5 papers

NM_001099922.3

p.E463G

c.1388A>G

1 paper

NM_001099922.3

p.M450T

c.1349T>C

1 paper

NM_001099922.3

p.S483C

c.1448C>G

1 paper

NM_001099922.3

p.Y488_G490delFs

c.1462_1468del7

1 paper

NM_001099922.3

p.N435S

c.1304A>G

1 paper

NM_001099922.3

p.A427T

c.1279G>A

1 paper

NM_001099922.3

p.C424Y

c.1271G>A

1 paper

NM_001099922.3

p.H513Q

c.1539T>A

6 papers

NM_001099922.3

p.Q547H

c.1641A>C

6 papers

NM_001099922.3

p.Q547H

c.1641A>T

1 paper

NM_001099922.3

p.R560P

c.1679G>C