Varaico: Literature-Extracted Genetic Variants

Gene:B3GLCT
Variant:p.L331S

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
1 paper
NM_194318.4
p.L331S
c.992T>C
Surrounding Variants
1 paper
NM_194318.4
p.L335_T342delFs
c.1005_1026del22
1 paper
NM_194318.4
p.R337H
c.1010G>A
1 paper
NM_194318.4
p.S338delFs
c.1013delG
1 paper
NM_194318.4
p.S338fs
c.1012_1013fs
1 paper
NM_194318.4
p.D340H
c.1018G>C
3 papers
NM_194318.4
p.D349N
c.1045G>A
1 paper
NM_194318.4
p.D349G
c.1046A>G
1 paper
NM_194318.4
p.N318D
c.952A>G
1 paper
NM_194318.4
p.P317S
c.949C>T
1 paper
NM_194318.4
p.D303Y
c.907G>T
1 paper
NM_194318.4
p.S302N
c.905G>A
1 paper
NM_194318.4
p.Y301F
c.902A>T
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