Varaico: Literature-Extracted Genetic Variants

Gene:COLGALT2
Variant:p.R427*

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.R427*
c.1279C>T
Surrounding Variants
1 paper
NM_015101.4
p.I425V
c.1273A>G
1 paper
NM_015101.4
p.K431N
c.1293G>T
1 paper
NM_015101.4
p.K431N
c.1293G>C
1 paper
NM_015101.4
p.D438N
c.1312G>A
1 paper
NM_015101.4
p.D438V
c.1313A>T
1 paper
NM_015101.4
p.F441_H443del3
c.1321_1328del9
1 paper
NM_015101.4
p.M453V
c.1357A>G
1 paper
NM_015101.4
p.N455N
c.1365C>T
2 papers
NM_015101.4
p.V420I
c.1258G>A
1 paper
NM_015101.4
p.S419S
c.1257A>T
1 paper
NM_015101.4
p.Y418H
c.1252T>C
1 paper
NM_015101.4
p.G412S
c.1234G>A
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