Varaico: Literature-Extracted Genetic Variants

Gene:COLGALT2
Variant:p.P137Q

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.P137Q
c.410C>A
Surrounding Variants
1 paper
NM_015101.4
p.S139C
c.416C>G
1 paper
NM_015101.4
p.L147_R148del1
c.441_443delCGT
1 paper
NM_015101.4
p.W159_S160insFs
c.477_478ins4
1 paper
NM_015101.4
p.S160insFs
c.479_480ins4
1 paper
NM_015101.4
p.Y162*
c.486C>G
1 paper
NM_015101.4
p.Y162*
c.486C>A
1 paper
NM_015101.4
p.L172P
c.515T>C
1 paper
NM_015101.4
p.A190V
c.569C>T
2 papers
NM_015101.4
p.E194*
c.580G>T
1 paper
NM_015101.4
p.S195Y
c.584C>A
1 paper
NM_015101.4
p.R196L
c.587G>T
1 paper
NM_015101.4
p.D122V
c.365A>T
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