Varaico: Literature-Extracted Genetic Variants

Gene:POMK
Variant:p.M301T

POMK

45 papers

RefSeq Summary

This gene encodes a protein that may be involved in the presentation of the laminin-binding O-linked carbohydrate chain of alpha-dystroglycan (a-DG), which forms transmembrane linkages between the ext...

Pfam Domains

PK_Tyr_Ser-Thraa 81–215UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

protein O-mannose kinase

HGNC Alias Symbols

FLJ23356; SgK196

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_032237.5
p.M301T
c.902T>C
Surrounding Variants
7 papers
NM_032237.5
p.V302D
c.905T>A
1 paper
NM_032237.5
p.I296V
c.886A>G
1 paper
NM_032237.5
p.G294R
c.880G>A
1 paper
NM_032237.5
p.G294R
c.880G>C
1 paper
NM_032237.5
p.L292F
c.874C>T
1 paper
NM_032237.5
p.T317A
c.949A>G
1 paper
NM_032237.5
p.S319L
c.956C>T
6 papers
NM_032237.5
p.P322L
c.965C>T
1 paper
NM_032237.5
p.T330T
c.990C>T
1 paper
NM_032237.5
p.D336N
c.1006G>A
2 papers
NM_032237.5
p.L338R
c.1013T>G
2 papers
NM_032237.5
p.R339*
c.1015A>T
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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."