Varaico: Literature-Extracted Genetic Variants

Gene:LARGE2
Variant:p.V155A

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.V155A
c.464T>C
Surrounding Variants
1 paper
NM_001300721.2
p.D161N
c.481G>A
1 paper
NM_001300721.2
p.W148R
c.442T>A
1 paper
NM_001300721.2
p.L129F
c.385C>T
1 paper
NM_001300721.2
p.N172S
c.515A>G
1 paper
NM_001300721.2
p.R196H
c.587G>A
1 paper
NM_001300721.2
p.A225insFs
c.673_674ins5
1 paper
NM_001300721.2
p.A225insFs
c.673_674ins10
1 paper
NM_001300721.2
p.A225fs
c.673_674fs
1 paper
NM_001300721.2
p.F254L
c.760T>C
1 paper
NM_001300721.2
p.F254L
c.762T>A
1 paper
NM_001300721.2
p.F254L
c.762T>G
1 paper
NM_001300721.2
p.V112F
c.334G>T
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