Varaico: Literature-Extracted Genetic Variants

Gene:PGM2L1
Variant:p.N608I

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
2 papers
NM_173582.6
p.N608I
c.1823A>T
Surrounding Variants
1 paper
NM_173582.6
p.Q611E
c.1831C>G
1 paper
NM_173582.6
p.R620H
c.1859G>A
1 paper
NM_173582.6
p.E581*
c.1741G>T
1 paper
NM_173582.6
p.S570S
c.1710T>C
1 paper
NM_173582.6
p.K550R
c.1649A>G
3 papers
NM_173582.6
p.V531I
c.1591G>A
1 paper
NM_173582.6
p.R529W
c.1585C>T
2 papers
NM_173582.6
p.Y516_P517delFs
c.1548_1549delGA
2 papers
NM_173582.6
p.P517fs
c.1549_1550fs
1 paper
NM_173582.6
p.R508H
c.1523G>A
1 paper
NM_173582.6
p.R506S
c.1518G>T
1 paper
NM_173582.6
p.R506S
c.1518G>C
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