Varaico: Literature-Extracted Genetic Variants

Gene:PGM2L1

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
1–12 of 63 variants
3 papers
NM_173582.6
p.V531I
c.1591G>A
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
2 papers
NM_173582.6
p.R58*
c.172C>T
2 papers
NM_173582.6
p.H176Y
c.526C>T
2 papers
NM_173582.6
p.E428*
c.1282G>T
2 papers
NM_173582.6
p.P517fs
c.1549_1550fs
2 papers
NM_173582.6
p.Y516_P517delFs
c.1548_1549delGA
2 papers
NM_173582.6
p.N608I
c.1823A>T
1 paper
NM_173582.6
p.M1K
c.2T>A
1 paper
NM_173582.6
p.A2insFs
c.5_6insG
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."