Varaico: Literature-Extracted Genetic Variants

Gene:COLGALT2

COLGALT2

83 papers

Pfam Domains

Glyco_tranf_2_4aa 52–313UCSCGlycosyltransferase family 25, N-terminal
Glyco_transf_25aa 341–526UCSCGlycosyltransferase family 25 (LPS biosynthesis protein)

Gene Aliases

HGNC Name

collagen beta(1-O)galactosyltransferase 2

HGNC Previous Symbol

GLT25D2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 105 variants
4 papers
NM_015101.4
p.Q385L
c.1154A>T
3 papers
NM_015101.4
p.Y212C
c.635A>G
2 papers
NM_015101.4
p.D38N
c.112G>A
2 papers
NM_015101.4
p.S52G
c.154A>G
2 papers
NM_015101.4
p.L56V
c.166C>G
2 papers
NM_015101.4
p.P137Q
c.410C>A
2 papers
NM_015101.4
p.E194*
c.580G>T
2 papers
NM_015101.4
p.R358W
c.1072C>T
2 papers
NM_015101.4
p.Y364H
c.1090T>C
2 papers
NM_015101.4
p.V420I
c.1258G>A
2 papers
NM_015101.4
p.P534P
c.1602C>T
1 paper
NM_015101.4
p.L13L
c.39A>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."