Varaico: Literature-Extracted Genetic Variants

Gene:PGM2L1
Variant:p.S149fs

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.S149fs
c.445_446fs
Surrounding Variants
1 paper
NM_173582.6
p.S149insFs
c.445_446insT
1 paper
NM_173582.6
p.L130V
c.388C>G
1 paper
NM_173582.6
p.R129Splc
c.386+8G>A
1 paper
NM_173582.6
p.C125Y
c.374G>A
1 paper
NM_173582.6
p.V157_P158Splc
c.471+1236C>T
1 paper
NM_173582.6
p.P158insFs
c.474dupA
1 paper
NM_173582.6
p.Y159fs
c.475_476fs
1 paper
NM_173582.6
p.A168S
c.502G>T
2 papers
NM_173582.6
p.H176Y
c.526C>T
1 paper
NM_173582.6
p.Q93*
c.277C>T
2 papers
NM_173582.6
p.R58*
c.172C>T
1 paper
NM_173582.6
p.E46K
c.136G>A
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."