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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PI4K2B

Variant:p.E80D

PI4K2B

36 papers

RefSeq Summary

This gene encodes a member of the type II PI4 kinase protein family. The encoded protein is primarily cytosolic and contributes to overall PI4-kinase activity along with other protein family members. ...

Pfam Domains

PI3_PI4_kinaseaa 129–429UCSCPhosphatidylinositol 3- and 4-kinase

Gene Aliases

HGNC Name

phosphatidylinositol 4-kinase type 2 beta

HGNC Alias Symbols

PI4KIIB; FLJ11105; PIK42B

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr4:25234403 G>C

NM_018323.4

p.E80D

c.240G>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a49 overlapping SVs

Surrounding Variants

1 paper

chr4:25234403 G>T

NM_018323.4

p.E80D

c.240G>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a49 overlapping SVs

5 papers

chr4:25234395 T>C

NM_018323.4

p.S78P

c.232T>C

Exome: 73.0% (AC=901998, hom=331688)Genome: 65.0% (AC=98854, hom=33630)49 overlapping SVs

1 paper

chr4:25234392 T>G

NM_018323.4

p.S77A

c.229T>G

exact variant not in gnomAD49 overlapping SVs

1 paper

chr4:25234300 C>T

NM_018323.4

p.A46V

c.137C>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a49 overlapping SVs

1 paper

chr4:25234254 C>A

NM_018323.4

p.P31T

c.91C>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a49 overlapping SVs

1 paper

chr4:25234179 G>A

NM_018323.4

p.E6K

c.16G>A

Exome: 6.1% (AC=76120, hom=2621)Genome: 7.4% (AC=11293, hom=492)49 overlapping SVs

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