Varaico: Literature-Extracted Genetic Variants

Gene:CSGALNACT2
Variant:p.D429E

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.D429E
c.1287T>A
Surrounding Variants
1 paper
NM_018590.5
p.D429E
c.1287T>G
1 paper
NM_018590.5
p.R428Q
c.1283G>A
1 paper
NM_018590.5
p.D423H
c.1267G>C
1 paper
NM_018590.5
p.R439C
c.1315C>T
1 paper
NM_018590.5
p.V419I
c.1255G>A
1 paper
NM_018590.5
p.P477L
c.1430C>T
4 papers
NM_018590.5
p.P479S
c.1435C>T
1 paper
NM_018590.5
p.C490insFs
c.1470dupT
1 paper
NM_018590.5
p.E497K
c.1489G>A
1 paper
NM_018590.5
p.L516M
c.1546C>A
2 papers
NM_018590.5
p.T527M
c.1580C>T
1 paper
NM_018590.5
p.A540V
c.1619C>T
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