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.R128Splc

c.384-5C>T

Surrounding Variants

2 papers

NM_001099922.3

p.R128Splc

c.384-1G>A

1 paper

NM_001099922.3

p.Q135E

c.403C>G

2 papers

NM_001099922.3

p.A140V

c.419C>T

1 paper

NM_001099922.3

p.P143L

c.428C>T

1 paper

NM_001099922.3

p.D148E

c.444T>G

1 paper

NM_001099922.3

p.S154insFs

c.461dupC

1 paper

NM_001099922.3

p.A177P

c.529G>C

1 paper

NM_001099922.3

p.H190Y

c.568C>T

1 paper

NM_001099922.3

p.A191fs

c.571_572fs

2 papers

NM_001099922.3

p.A191delFs

c.573delT

4 papers

NM_001099922.3

p.G207_K209del3

c.619_626del9

1 paper

NM_001099922.3

p.K206N

c.618A>C