Varaico: Literature-Extracted Genetic Variants

Gene:RXYLT1
Variant:p.P49delFs

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
1 paper
NM_014254.3
p.P49delFs
c.147delC
Surrounding Variants
1 paper
NM_014254.3
p.A50fs
c.148_149fs
1 paper
NM_014254.3
p.P40L
c.119C>T
1 paper
NM_014254.3
p.Q34L
c.101A>T
1 paper
NM_014254.3
p.Y25S
c.74A>C
1 paper
NM_014254.3
p.A24P
c.70G>C
1 paper
NM_014254.3
p.Y22S
c.65A>C
1 paper
NM_014254.3
p.K6R
c.17A>G
1 paper
NM_014254.3
p.T4T
c.12G>A
1 paper
NM_014254.3
p.Q58*
c.172C>T
1 paper
NM_014254.3
p.E65D
c.195A>T
1 paper
NM_014254.3
p.Q78_H79delFs
c.234_235delAC
1 paper
NM_014254.3
p.S84S
c.252C>T
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