Varaico: Literature-Extracted Genetic Variants

Gene:POMK

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
1–12 of 48 variants
7 papers
NM_032237.5
p.L137R
c.410T>G
7 papers
NM_032237.5
p.V302D
c.905T>A
6 papers
NM_032237.5
p.Q258R
c.773A>G
6 papers
NM_032237.5
p.P322L
c.965C>T
5 papers
NM_032237.5
p.R46*
c.136C>T
4 papers
NM_032237.5
p.Q109*
c.325C>T
4 papers
NM_032237.5
p.V134G
c.401T>G
3 papers
NM_032237.5
p.F96fs
c.286_287fs
2 papers
NM_032237.5
p.R15*
c.43C>T
2 papers
NM_032237.5
p.S48P
c.142T>C
2 papers
NM_032237.5
p.T79R
c.236C>G
2 papers
NM_032237.5
p.R86H
c.257G>A
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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."