Varaico: Literature-Extracted Genetic Variants

Gene:COLGALT2
Variant:p.Y364H

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
Selected Variant
2 papers
NM_015101.4
p.Y364H
c.1090T>C
Surrounding Variants
1 paper
NM_015101.4
p.Q366H
c.1098G>T
1 paper
NM_015101.4
p.Q366H
c.1098G>C
1 paper
NM_015101.4
p.R361H
c.1082G>A
1 paper
NM_015101.4
p.E369Q
c.1105G>C
1 paper
NM_015101.4
p.R358Q
c.1073G>A
2 papers
NM_015101.4
p.R358W
c.1072C>T
1 paper
NM_015101.4
p.K371N
c.1113G>T
1 paper
NM_015101.4
p.K371N
c.1113G>C
1 paper
NM_015101.4
p.R351H
c.1052G>A
1 paper
NM_015101.4
p.I347R
c.1040T>G
1 paper
NM_015101.4
p.G340V
c.1019G>T
1 paper
NM_015101.4
p.M339I
c.1017G>T
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