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

8 papers

NM_001099922.3

p.Y1074C

c.3221A>G

Surrounding Variants

1 paper

NM_001099922.3

p.Y1074F

c.3221A>T

1 paper

NM_001099922.3

p.P1073R

c.3218C>G

1 paper

NM_001099922.3

p.G1063_V1065del3

c.3187_3194del9

1 paper

NM_001099922.3

p.P1097L

c.3290C>T

1 paper

NM_001099922.3

p.H1099Q

c.3297T>A

1 paper

NM_001099922.3

p.H1099Q

c.3297T>G

1 paper

NM_001099922.3

p.T1103K

c.3308C>A

1 paper

NM_001099922.3

p.D1050Splc

c.3149-16A>G

1 paper

NM_001099922.3

p.S1108F

c.3323C>T

1 paper

NM_001099922.3

p.P1119A

c.3355C>G

1 paper

NM_001099922.3

p.G1121V

c.3362G>T

1 paper

NM_001099922.3

p.G1136C

c.3406G>T