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

2 papers

NM_001099922.3

p.G207R

c.619G>A

Surrounding Variants

1 paper

NM_001099922.3

p.G207R

c.619G>C

1 paper

NM_001099922.3

p.K206N

c.618A>C

1 paper

NM_001099922.3

p.K206N

c.618A>T

1 paper

NM_001099922.3

p.G207G

c.621A>T

4 papers

NM_001099922.3

p.G207_K209del3

c.619_626del9

1 paper

NM_001099922.3

p.Y211C

c.632A>G

1 paper

NM_001099922.3

p.S213N

c.638G>A

1 paper

NM_001099922.3

p.Q214E

c.640C>G

1 paper

NM_001099922.3

p.Q214*

c.640C>T

1 paper

NM_001099922.3

p.L217ins0

c.649_651dupTTG

1 paper

NM_001099922.3

p.N218D

c.652A>G

1 paper

NM_001099922.3

p.S221L

c.662C>T