Varaico: Literature-Extracted Genetic Variants

Gene:PGM2L1
Variant:p.R506S

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.R506S
c.1518G>C
Surrounding Variants
1 paper
NM_173582.6
p.R506S
c.1518G>T
1 paper
NM_173582.6
p.R508H
c.1523G>A
1 paper
NM_173582.6
p.T499P
c.1495A>C
1 paper
NM_173582.6
p.P498fs
c.1492_1493fs
1 paper
NM_173582.6
p.P498delFs
c.1493delG
2 papers
NM_173582.6
p.P517fs
c.1549_1550fs
2 papers
NM_173582.6
p.Y516_P517delFs
c.1548_1549delGA
1 paper
NM_173582.6
p.L493M
c.1477T>A
1 paper
NM_173582.6
p.F492_L493insC
c.1474_1478ins3
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.R529W
c.1585C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."