Varaico: Literature-Extracted Genetic Variants

Gene:RXYLT1
Variant:p.T248Splc

RXYLT1

45 papers

RefSeq Summary

This gene encodes a type II transmembrane protein that is thought to have glycosyltransferase function. Mutations in this gene result in cobblestone lissencephaly. Alternative splicing results in mult...

Pfam Domains

RXYLT1_Naa 100–243UCSCRXYLT1 N-terminal domain
RXYLT1_Caa 249–438UCSCRXYLT1 C-terminal domain

Gene Aliases

HGNC Name

ribitol xylosyltransferase 1

HGNC Alias Symbol

HP10481

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_014254.3
p.T248Splc
c.743+2T>A
Surrounding Variants
1 paper
NM_014254.3
p.V239D
c.716T>A
1 paper
NM_014254.3
p.Y229C
c.686A>G
2 papers
NM_014254.3
p.E204Q
c.610G>C
1 paper
NM_014254.3
p.N160S
c.479A>G
1 paper
NM_014254.3
p.S143Splc
c.429-2A>G
1 paper
NM_014254.3
p.T275M
c.824C>T
1 paper
NM_014254.3
p.G293W
c.877G>T
1 paper
NM_014254.3
p.H305Splc
c.914+6T>G
1 paper
NM_014254.3
p.K316delFs
c.947delA
1 paper
NM_014254.3
p.K316fs
c.946_947fs
1 paper
NM_014254.3
p.E337K
c.1009G>A
1 paper
NM_014254.3
p.Q374P
c.1121A>C
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