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.P920Q

c.2759C>A

Surrounding Variants

1 paper

NM_001099922.3

p.L918P

c.2753T>C

3 papers

NM_001099922.3

p.L918ins1

c.2753_2754insACC

2 papers

NM_001099922.3

p.P932_P933del1

c.2796_2798delACC

1 paper

NM_001099922.3

p.L918_P919insP

c.2752_2756ins3

1 paper

NM_001099922.3

p.L918_P919insPP

c.2752_2756ins6

1 paper

NM_001099922.3

p.P923Q

c.2768C>A

1 paper

NM_001099922.3

p.P927L

c.2780C>T

1 paper

NM_001099922.3

p.P927P

c.2781A>G

1 paper

NM_001099922.3

p.P933ins3

c.2798_2799ins9

1 paper

NM_001099922.3

p.P933ins2

c.2798_2799ins6

2 papers

NM_001099922.3

p.P932_P933ins1

c.2796_2797insCCT

6 papers

NM_001099922.3

p.P934del1

c.2800_2802delCCT