Varaico: Literature-Extracted Genetic Variants

Gene:B3GALT5
Variant:p.P237delFs

B3GALT5

30 papers

RefSeq Summary

This gene encodes a member of a family of membrane-bound glycoproteins. The encoded protein may synthesize type 1 Lewis antigens, which are elevated in gastrointestinal and pancreatic cancers. Alterna...

Pfam Domains

Galactosyl_Taa 71–261UCSCGalactosyltransferase

Gene Aliases

HGNC Name

beta-1,3-galactosyltransferase 5

HGNC Alias Symbols

beta3Gal-T5; B3GalT-V; GLCT5; B3T5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001356336.2
p.P237delFs
c.710delC
Surrounding Variants
1 paper
NM_001356336.2
p.P237T
c.709C>A
1 paper
NM_001356336.2
p.P237Q
c.710C>A
1 paper
NM_001356336.2
p.K234*
c.700A>T
1 paper
NM_001356336.2
p.Y238*
c.714C>A
1 paper
NM_001356336.2
p.Y238*
c.714C>G
1 paper
NM_001356336.2
p.I239V
c.715A>G
1 paper
NM_001356336.2
p.I239M
c.717T>G
1 paper
NM_001356336.2
p.A226V
c.677C>T
1 paper
NM_001356336.2
p.V225M
c.673G>A
1 paper
NM_001356336.2
p.L250R
c.749T>G
1 paper
NM_001356336.2
p.G218S
c.652G>A
1 paper
NM_001356336.2
p.F267insFs
c.801dupT
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