Varaico: Literature-Extracted Genetic Variants

Gene:COLGALT2
Variant:p.R545G

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
1 paper
NM_015101.4
p.R545G
c.1633A>G
Surrounding Variants
1 paper
NM_015101.4
p.Y542C
c.1625A>G
1 paper
NM_015101.4
p.Q565H
c.1695G>T
1 paper
NM_015101.4
p.Q565H
c.1695G>C
1 paper
NM_015101.4
p.G567E
c.1700G>A
1 paper
NM_015101.4
p.D588N
c.1762G>A
1 paper
NM_015101.4
p.N607S
c.1820A>G
1 paper
NM_015101.4
p.A610T
c.1828G>A
1 paper
NM_015101.4
p.P613P
c.1839G>A
2 papers
NM_015101.4
p.P534P
c.1602C>T
1 paper
NM_015101.4
p.V501I
c.1501G>A
1 paper
NM_015101.4
p.A491A
c.1473C>T
1 paper
NM_015101.4
p.E490D
c.1470A>T
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