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.D978H

c.2932G>C

Surrounding Variants

1 paper

NM_001099922.3

p.S973N

c.2918G>A

4 papers

NM_001099922.3

p.G972V

c.2915G>T

1 paper

NM_001099922.3

p.P970R

c.2909C>G

1 paper

NM_001099922.3

p.C968Y

c.2903G>A

1 paper

NM_001099922.3

p.P964A

c.2890C>G

1 paper

NM_001099922.3

p.P963P

c.2889T>C

1 paper

NM_001099922.3

p.P963S

c.2887C>T

1 paper

NM_001099922.3

p.D948N

c.2842G>A

1 paper

NM_001099922.3

p.L947V

c.2839C>G

1 paper

NM_001099922.3

p.P941Fs

c.2822delinsTTFs

1 paper

NM_001099922.3

p.P934A

c.2800C>G

2 papers

NM_001099922.3

p.P933P

c.2799T>A