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.R659R

c.1977G>A

Surrounding Variants

1 paper

NM_001099922.3

p.H668Q

c.2004C>G

1 paper

NM_001099922.3

p.G672D

c.2015G>A

1 paper

NM_001099922.3

p.K683E

c.2047A>G

1 paper

NM_001099922.3

p.R684G

c.2050A>G

2 papers

NM_001099922.3

p.C686Y

c.2057G>A

1 paper

NM_001099922.3

p.R695K

c.2084G>A

4 papers

NM_001099922.3

p.P658L

c.1973C>T

1 paper

NM_001099922.3

p.R701H

c.2102G>A

2 papers

NM_001099922.3

p.S702R

c.2104A>C

2 papers

NM_001099922.3

p.S702R

c.2106T>A

2 papers

NM_001099922.3

p.S702R

c.2106T>G

1 paper

NM_001099922.3

p.H703ins1

c.2107_2108insAGG