Varaico: Literature-Extracted Genetic Variants

Gene:PGM2L1
Variant:p.A2insFs

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.A2insFs
c.5_6insG
Surrounding Variants
1 paper
NM_173582.6
p.M1K
c.2T>A
1 paper
NM_173582.6
p.E3fs
c.7_8fs
1 paper
NM_173582.6
p.T5_E6insG
c.13_17ins3
2 papers
NM_173582.6
p.L14P
c.41T>C
2 papers
NM_173582.6
p.P17delFs
c.51delG
2 papers
NM_173582.6
p.Y18fs
c.52_53fs
1 paper
NM_173582.6
p.A28T
c.82G>A
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