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.T731A

c.2191A>G

Surrounding Variants

1 paper

NM_001099922.3

p.Y735C

c.2204A>G

1 paper

NM_001099922.3

p.E736G

c.2207A>G

2 papers

NM_001099922.3

p.E738G

c.2213A>G

2 papers

NM_001099922.3

p.G720V

c.2159G>T

1 paper

NM_001099922.3

p.Y715Y

c.2145T>C

1 paper

NM_001099922.3

p.M706I

c.2118G>A

1 paper

NM_001099922.3

p.M706I

c.2118G>C

1 paper

NM_001099922.3

p.M706I

c.2118G>T

1 paper

NM_001099922.3

p.H703ins1

c.2107_2108insAGG

2 papers

NM_001099922.3

p.S702R

c.2106T>A

2 papers

NM_001099922.3

p.S702R

c.2106T>G

2 papers

NM_001099922.3

p.S702R

c.2104A>C