Varaico: Literature-Extracted Genetic Variants

Gene:LARGE2
Variant:p.R628H

LARGE2

47 papers

Pfam Domains

Glyco_transf_8aa 100–346UCSCGlycosyl transferase family 8
Glyco_transf_49aa 431–497UCSCGlycosyl-transferase for dystroglycan
Glyco_transf_49aa 495–667UCSCGlycosyl-transferase for dystroglycan

Gene Aliases

HGNC Name

LARGE xylosyl- and glucuronyltransferase 2

HGNC Previous Symbol

GYLTL1B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001300721.2
p.R628H
c.1883G>A
Surrounding Variants
1 paper
NM_001300721.2
p.C626R
c.1876T>C
1 paper
NM_001300721.2
p.P631L
c.1892C>T
1 paper
NM_001300721.2
p.R624*
c.1870C>T
1 paper
NM_001300721.2
p.A578V
c.1733C>T
1 paper
NM_001300721.2
p.H567Y
c.1699C>T
1 paper
NM_001300721.2
p.F556F
c.1668C>T
1 paper
NM_001300721.2
p.H667insFs
c.1999_2000insT
1 paper
NM_001300721.2
p.I673_S674ins5
c.2017_2021ins15
1 paper
NM_001300721.2
p.I673_S674ins10
c.2017_2021ins30
1 paper
NM_001300721.2
p.R677L
c.2030G>T
1 paper
NM_001300721.2
p.R683C
c.2047C>T
1 paper
NM_001300721.2
p.L689V
c.2065C>G
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