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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POMK

Variant:p.T79R

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr8:43103784 C>G

NM_032237.5

p.T79R

c.236C>G

Exome: 0.0% (AC=17, hom=0)Genome: n/a20 overlapping SVs

Surrounding Variants

2 papers

chr8:43103805 G>A

NM_032237.5

p.R86H

c.257G>A

PK_Tyr_Ser-Thr

Exome: 0.0% (AC=56, hom=0)Genome: 0.0% (AC=5, hom=0)20 overlapping SVs

1 paper

chr8:43103809 TG>T

NM_032237.5

p.E89delFs

c.265delG

PK_Tyr_Ser-Thr

exact variant not in gnomAD20 overlapping SVs

1 paper

chr8:43103757 C>T

NM_032237.5

p.P70L

c.209C>T

Exome: 0.0% (AC=2, hom=0)Genome: n/a20 overlapping SVs

1 paper

chr8:43103819 G>A

NM_032237.5

p.A91T

c.271G>A

PK_Tyr_Ser-Thr

Exome: 0.0% (AC=22, hom=0)Genome: 0.0% (AC=1, hom=0)20 overlapping SVs

1 paper

chr8:43103718 A>G

NM_032237.5

p.Y57C

c.170A>G

Exome: 0.0% (AC=18, hom=0)Genome: 0.0% (AC=3, hom=0)20 overlapping SVs

2 papers

chr8:43103690 T>C

NM_032237.5

p.S48P

c.142T>C

Exome: 0.0% (AC=189, hom=1)Genome: 0.0% (AC=15, hom=0)20 overlapping SVs

1 paper

chr8:43103685 G>A

NM_032237.5

p.R46Q

c.137G>A

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=4, hom=0)20 overlapping SVs

5 papers

chr8:43103684 C>T

NM_032237.5

p.R46*

c.136C>T

Exome: 0.0% (AC=89, hom=0)Genome: 0.0% (AC=26, hom=0)20 overlapping SVs

1 paper

chr8:43103663 G>A

NM_032237.5

p.D39N

c.115G>A

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)20 overlapping SVs

2 papers

chr8:43103591 C>T

NM_032237.5

p.R15*

c.43C>T

Exome: 0.0% (AC=16, hom=0)Genome: 0.0% (AC=2, hom=0)20 overlapping SVs

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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."