Varaico: Literature-Extracted Genetic Variants

Gene:CSGALNACT2
Variant:p.E342*

CSGALNACT2

42 papers

RefSeq Summary

This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. The encoded protein is involved in elongation during chondroitin sulfate synthesis. Alternative splicing of this...

Pfam Domains

CHGNaa 57–516UCSCChondroitin N-acetylgalactosaminyltransferase

Gene Aliases

HGNC Name

chondroitin sulfate N-acetylgalactosaminyltransferase 2

HGNC Alias Symbols

GALNACT2; MGC40204; PRO0082; GALNACT-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018590.5
p.E342*
c.1024G>T
Surrounding Variants
1 paper
NM_018590.5
p.R345H
c.1034G>A
3 papers
NM_018590.5
p.L336V
c.1006T>G
1 paper
NM_018590.5
p.E328_N333delFs
c.982_998del17
1 paper
NM_018590.5
p.K358del1
c.1072_1073delAAG
1 paper
NM_018590.5
p.K358_G359del1
c.1074_1076delGGG
1 paper
NM_018590.5
p.L362F
c.1086G>T
1 paper
NM_018590.5
p.R381Q
c.1142G>A
1 paper
NM_018590.5
p.N400_E409del0
c.1199_1225del27
1 paper
NM_018590.5
p.E409K
c.1225G>A
2 papers
NM_018590.5
p.H304Y
c.910C>T
1 paper
NM_018590.5
p.R269G
c.805A>G
1 paper
NM_018590.5
p.M264V
c.790A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."