Varaico: Literature-Extracted Genetic Variants

Gene:B3GLCT
Variant:p.Y366*

B3GLCT

114 papers

RefSeq Summary

The protein encoded by this gene is a beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. The encoded protein is...

Pfam Domains

Fringeaa 51–226UCSCFringe-like
Fringeaa 262–482UCSCFringe-like

Gene Aliases

HGNC Name

beta 3-glucosyltransferase

HGNC Previous Symbol

B3GALTL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_194318.4
p.Y366*
c.1098T>G
Surrounding Variants
4 papers
NM_194318.4
p.Y366*
c.1098T>A
1 paper
NM_194318.4
p.G369_E370delins
c.1105_1108delinsAGCA
8 papers
NM_194318.4
p.E370K
c.1108G>A
1 paper
NM_194318.4
p.P371L
c.1112C>T
1 paper
NM_194318.4
p.V372del1
c.1114_1115delGTG
1 paper
NM_194318.4
p.I356fs
c.1066_1067fs
1 paper
NM_194318.4
p.I356_H361delFs
c.1067_1082del16
3 papers
NM_194318.4
p.S355Splc
c.1065-1G>A
1 paper
NM_194318.4
p.Y380C
c.1139A>G
1 paper
NM_194318.4
p.Y389*
c.1167C>A
1 paper
NM_194318.4
p.Y389*
c.1167C>G
1 paper
NM_194318.4
p.I390N
c.1169T>A
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