Varaico: Literature-Extracted Genetic Variants

Gene:PGM2L1
Variant:p.G416R

PGM2L1

47 papers

Pfam Domains

PGM_PMM_Iaa 64–212UCSCPhosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain I
PGM_PMM_IIaa 237–347UCSCPhosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain II
PGM_PMM_IIIaa 353–482UCSCPhosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain III

Gene Aliases

HGNC Name

phosphoglucomutase 2 like 1

HGNC Alias Symbols

FLJ32029; BM32A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_173582.6
p.G416R
c.1246G>A
Surrounding Variants
1 paper
NM_173582.6
p.G416R
c.1246G>C
1 paper
NM_173582.6
p.F412_K413ins15
c.1236_1237ins45
1 paper
NM_173582.6
p.F412insFs
c.1235_1236ins7
2 papers
NM_173582.6
p.E428*
c.1282G>T
1 paper
NM_173582.6
p.L430I
c.1288C>A
1 paper
NM_173582.6
p.E435K
c.1303G>A
1 paper
NM_173582.6
p.V445_L446insT
c.1333_1337ins3
1 paper
NM_173582.6
p.S487*
c.1460C>G
1 paper
NM_173582.6
p.S487*
c.1460C>A
1 paper
NM_173582.6
p.F492_L493insC
c.1474_1478ins3
1 paper
NM_173582.6
p.L493M
c.1477T>A
1 paper
NM_173582.6
p.P498fs
c.1492_1493fs
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