Varaico: Literature-Extracted Genetic Variants

Gene:PEMT

PEMT

56 papers

RefSeq Summary

Phosphatidylcholine (PC) is the most abundant mammalian phospholipid. This gene encodes an enzyme which converts phosphatidylethanolamine to phosphatidylcholine by sequential methylation in the liver....

Pfam Domains

PEMTaa 88–191UCSCPhospholipid methyltransferase

Gene Aliases

HGNC Name

phosphatidylethanolamine N-methyltransferase

HGNC Alias Symbols

PEMPT; PEMT2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 39 variants
6 papers
NM_148172.3
p.V212M
c.634G>A
2 papers
NM_148172.3
p.V95I
c.283G>A
2 papers
NM_007169.3
p.V175M
c.523G>A
1 paper
NM_148172.3
p.N6T
c.17A>C
1 paper
NM_148172.3
p.S15S
c.45G>C
1 paper
NM_148172.3
p.P19P
c.57T>C
1 paper
NM_007169.3
p.M1I
c.3G>A
1 paper
NM_148172.3
p.A55V
c.164C>T
1 paper
NM_148172.3
p.V56I
c.166G>A
1 paper
NM_148172.3
p.P63L
c.188C>T
1 paper
NM_007169.3
p.V31_V32Splc
c.93+9059C>T
1 paper
NM_148172.3
p.V68_V69Splc
c.205-12772G>C
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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."