Varaico: Literature-Extracted Genetic Variants

Gene:B3GALNT2
Variant:p.V144fs

B3GALNT2

106 papers

RefSeq Summary

This gene encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced trans...

Pfam Domains

Galactosyl_Taa 302–458UCSCGalactosyltransferase

Gene Aliases

HGNC Name

beta-1,3-N-acetylgalactosaminyltransferase 2

HGNC Alias Symbol

MGC39558

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152490.5
p.V144fs
c.430_431fs
Surrounding Variants
5 papers
NM_152490.5
p.R150*
c.448C>T
1 paper
NM_152490.5
p.S137L
c.410C>T
1 paper
NM_152490.5
p.I155T
c.464T>C
1 paper
NM_152490.5
p.S159G
c.475A>G
1 paper
NM_152490.5
p.G161V
c.482G>T
1 paper
NM_001277155.3
p.K219_L220insFs
c.657_658insTT
1 paper
NM_152490.5
p.L179P
c.536T>C
2 papers
NM_152490.5
p.E185_E186Splc
c.555+7A>C
1 paper
NM_152490.5
p.A191T
c.571G>A
1 paper
NM_152490.5
p.R192H
c.575G>A
1 paper
NM_001277155.3
p.Q242_V243delFs
c.726_727delCC
2 papers
NM_152490.5
p.N203S
c.608A>G
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