Varaico: Literature-Extracted Genetic Variants

Gene:POMK
Variant:p.S156delFs

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.S156delFs
c.468delC
Surrounding Variants
2 papers
NM_032237.5
p.L157*
c.470T>A
1 paper
NM_032237.5
p.N171fs
c.511_512fs
1 paper
NM_032237.5
p.G139R
c.415G>C
7 papers
NM_032237.5
p.L137R
c.410T>G
4 papers
NM_032237.5
p.V134G
c.401T>G
1 paper
NM_032237.5
p.D184Y
c.550G>T
1 paper
NM_032237.5
p.G122E
c.365G>A
1 paper
NM_032237.5
p.D118A
c.353A>C
4 papers
NM_032237.5
p.Q109*
c.325C>T
1 paper
NM_032237.5
p.D204N
c.610G>A
2 papers
NM_032237.5
p.D204A
c.611A>C
1 paper
NM_032237.5
p.D207N
c.619G>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."