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

15 papers

NM_001099922.3

p.K94E

c.280A>G

Surrounding Variants

1 paper

NM_001099922.3

p.K92I

c.275A>T

1 paper

NM_001099922.3

p.E102D

c.306A>T

1 paper

NM_001099922.3

p.A83T

c.247G>A

3 papers

NM_001099922.3

p.N107T

c.320A>C

69 papers

NM_001099922.3

p.N107S

c.320A>G

1 paper

NM_001099922.3

p.N107K

c.321T>A

1 paper

NM_001099922.3

p.N107K

c.321T>G

1 paper

NM_001099922.3

p.L110del1

c.328_330delCTG

1 paper

NM_001099922.3

p.L112L

c.336G>A

1 paper

NM_001099922.3

p.A113V

c.338C>T

1 paper

NM_001099922.3

p.E119Q

c.355G>C

1 paper

NM_001099922.3

p.G120D

c.359G>A