Varaico: Literature-Extracted Genetic Variants

Gene:COLGALT2
Variant:p.S52G

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.S52G
c.154A>G
Surrounding Variants
2 papers
NM_015101.4
p.L56V
c.166C>G
1 paper
NM_015101.4
p.V57M
c.169G>A
2 papers
NM_015101.4
p.D38N
c.112G>A
1 paper
NM_015101.4
p.L68R
c.203T>G
1 paper
NM_015101.4
p.R33W
c.97C>T
1 paper
NM_015101.4
p.F71C
c.212T>G
1 paper
NM_015101.4
p.R22L
c.65G>T
1 paper
NM_015101.4
p.K82N
c.246G>T
1 paper
NM_015101.4
p.K82N
c.246G>C
1 paper
NM_015101.4
p.S18*
c.53C>G
1 paper
NM_015101.4
p.S18*
c.53C>A
1 paper
NM_015101.4
p.L13L
c.39A>G
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