Varaico: Literature-Extracted Genetic Variants

Gene:COLGALT2
Variant:p.D122V

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.D122V
c.365A>T
Surrounding Variants
1 paper
NM_015101.4
p.V116L
c.346G>T
1 paper
NM_015101.4
p.V116L
c.346G>C
1 paper
NM_015101.4
p.W105*
c.315G>A
1 paper
NM_015101.4
p.W105*
c.314G>A
1 paper
NM_015101.4
p.R103S
c.309G>C
1 paper
NM_015101.4
p.E100K
c.298G>A
1 paper
NM_015101.4
p.D92G
c.275A>G
1 paper
NM_015101.4
p.A89_A90delFs
c.267_268delCT
1 paper
NM_015101.4
p.A89A
c.267A>T
2 papers
NM_015101.4
p.P137Q
c.410C>A
1 paper
NM_015101.4
p.S139C
c.416C>G
1 paper
NM_015101.4
p.L147_R148del1
c.441_443delCGT
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