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.E30Q

c.88G>C

Surrounding Variants

1 paper

NM_001099922.3

p.K28I

c.83A>T

1 paper

NM_001099922.3

p.L32R

c.95T>G

2 papers

NM_001099922.3

p.Q40H

c.120A>C

2 papers

NM_001099922.3

p.Q40H

c.120A>T

1 paper

NM_001099922.3

p.R43K

c.128G>A

1 paper

NM_001099922.3

p.S52_T53insT

c.154_158ins3

1 paper

NM_001099922.3

p.E54fs

c.160_161fs

2 papers

NM_001099922.3

p.T57P

c.169A>C

1 paper

NM_001099922.3

p.L67W

c.200T>G

5 papers

NM_001099922.3

p.E69_D70del1

c.207_209delAGA

1 paper

NM_001099922.3

p.K68T

c.203A>C

1 paper

NM_001099922.3

p.I71V

c.211A>G