Varaico: Literature-Extracted Genetic Variants

Gene:LARGE2
Variant:p.L261_L263del3

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.L261_L263del3
c.781_788del9
Surrounding Variants
1 paper
NM_001300721.2
p.R262W
c.784C>T
1 paper
NM_001300721.2
p.L266F
c.796C>T
1 paper
NM_001300721.2
p.P305S
c.913C>T
1 paper
NM_001300721.2
p.P305L
c.914C>T
1 paper
NM_001300721.2
p.R310fs
c.928_929fs
1 paper
NM_001300721.2
p.L311fs
c.931_932fs
1 paper
NM_001300721.2
p.I338I
c.1014C>T
1 paper
NM_001300721.2
p.Q388_L389Splc
c.1164+20C>T
1 paper
NM_001300721.2
p.L396M
c.1186C>A
1 paper
NM_001300721.2
p.E398K
c.1192G>A
1 paper
NM_001300721.2
p.R406W
c.1216C>T
2 papers
NM_001300721.2
p.R428fs
c.1282_1283fs
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