Varaico: Literature-Extracted Genetic Variants

Gene:COLGALT2
Variant:p.G412S

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.G412S
c.1234G>A
Surrounding Variants
1 paper
NM_015101.4
p.R408W
c.1222A>T
1 paper
NM_015101.4
p.Y418H
c.1252T>C
1 paper
NM_015101.4
p.S419S
c.1257A>T
2 papers
NM_015101.4
p.V420I
c.1258G>A
1 paper
NM_015101.4
p.P400A
c.1198C>G
1 paper
NM_015101.4
p.R398*
c.1192C>T
4 papers
NM_015101.4
p.Q385L
c.1154A>T
1 paper
NM_015101.4
p.N382S
c.1145A>G
1 paper
NM_015101.4
p.I425V
c.1273A>G
1 paper
NM_015101.4
p.R427*
c.1279C>T
1 paper
NM_015101.4
p.K431N
c.1293G>T
1 paper
NM_015101.4
p.K431N
c.1293G>C
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