Varaico: Literature-Extracted Genetic Variants

Gene:POMK
Variant:p.L241fs

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
1 paper
NM_032237.5
p.L241fs
c.721_722fs
Surrounding Variants
1 paper
NM_032237.5
p.G245R
c.733G>C
1 paper
NM_032237.5
p.D229G
c.686A>G
1 paper
NM_032237.5
p.V254M
c.760G>A
1 paper
NM_032237.5
p.D227A
c.680A>C
6 papers
NM_032237.5
p.Q258R
c.773A>G
1 paper
NM_032237.5
p.Q214L
c.641A>T
1 paper
NM_032237.5
p.Q214*
c.640C>T
1 paper
NM_032237.5
p.D207N
c.619G>A
2 papers
NM_032237.5
p.D204A
c.611A>C
1 paper
NM_032237.5
p.D204N
c.610G>A
1 paper
NM_032237.5
p.L292F
c.874C>T
1 paper
NM_032237.5
p.G294R
c.880G>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."