Varaico: Literature-Extracted Genetic Variants

Gene:B3GALT5
Variant:p.Y129S

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.Y129S
c.386A>C
Surrounding Variants
1 paper
NM_001356336.2
p.R115*
c.343C>T
1 paper
NM_001356336.2
p.D110E
c.330C>A
1 paper
NM_001356336.2
p.D110E
c.330C>G
2 papers
NM_001356336.2
p.M85T
c.254T>C
1 paper
NM_001356336.2
p.Q54L
c.161A>T
1 paper
NM_001356336.2
p.G42E
c.125G>A
1 paper
NM_001356336.2
p.G218S
c.652G>A
1 paper
NM_001356336.2
p.F36I
c.106T>A
1 paper
NM_001356336.2
p.V225M
c.673G>A
1 paper
NM_001356336.2
p.A226V
c.677C>T
1 paper
NM_001356336.2
p.K234*
c.700A>T
1 paper
NM_001356336.2
p.P237delFs
c.710delC
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