Varaico: Literature-Extracted Genetic Variants

COLGALT1

63 papers

RefSeq Summary

The protein encoded by this gene is one of two enzymes that transfers galactose moieties to hydroxylysine residues of collagen and mannose binding lectin. This gene is constitutively expressed and enc...

Pfam Domains

Glyco_tranf_2_4aa 51–312UCSCGlycosyltransferase family 25, N-terminal

Glyco_transf_25aa 340–525UCSCGlycosyltransferase family 25 (LPS biosynthesis protein)

Gene Aliases

HGNC Name

collagen beta(1-O)galactosyltransferase 1

HGNC Previous Symbol

GLT25D1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 99 variants

4 papers

NM_024656.4

p.G377R

c.1129G>C

4 papers

NM_024656.4

p.R471W

c.1411C>T

3 papers

NM_024656.4

p.L151R

c.452T>G

3 papers

NM_024656.4

p.A154P

c.460G>C

3 papers

NM_024656.4

p.D166A

c.497A>C

3 papers

NM_024656.4

p.D168A

c.503A>C

2 papers

NM_024656.4

p.R102W

c.304C>T

2 papers

NM_024656.4

p.W135R

c.403T>A

2 papers

NM_024656.4

p.W135R

c.403T>C

2 papers

NM_024656.4

p.R139C

c.415C>T

2 papers

NM_024656.4

p.R147H

c.440G>A

2 papers

NM_024656.4

p.R155G

c.463C>G