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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PI4K2B

Variant:p.S479fs

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

chr4:25277176 TCC>N

NM_018323.4

p.S479fs

c.1435_1436fs

exact variant not in gnomAD46 overlapping SVs

Surrounding Variants

1 paper

chr4:25277093 G>A

NM_018323.4

p.R451H

c.1352G>A

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=4, hom=0)46 overlapping SVs

1 paper

chr4:25277087 T>C

NM_018323.4

p.V449A

c.1346T>C

Exome: 0.0% (AC=38, hom=0)Genome: 0.0% (AC=12, hom=0)46 overlapping SVs

1 paper

chr4:25277030 A>T

NM_018323.4

p.Q430L

c.1289A>T

exact variant not in gnomAD46 overlapping SVs

1 paper

chr4:25268573 T>C

NM_018323.4

p.F403F

c.1209T>C

PI3_PI4_kinase

Exome: 0.0% (AC=0, hom=0)Genome: n/a47 overlapping SVs

1 paper

chr4:25268531 G>A

NM_018323.4

p.M389I

c.1167G>A

PI3_PI4_kinase

exact variant not in gnomAD47 overlapping SVs

1 paper

chr4:25268531 G>C

NM_018323.4

p.M389I

c.1167G>C

PI3_PI4_kinase

exact variant not in gnomAD47 overlapping SVs

1 paper

chr4:25268531 G>T

NM_018323.4

p.M389I

c.1167G>T

PI3_PI4_kinase

Exome: 0.0% (AC=0, hom=0)Genome: n/a47 overlapping SVs

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