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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PIP4P2

Variant:p.C107S

PIP4P2

16 papers

RefSeq Summary

TMEM55A catalyzes the degradation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing the 4-phosphate (Ungewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM, Mar 2008].

Pfam Domains

Tmemb_55Aaa 6–250UCSCTransmembrane protein 55A

Gene Aliases

HGNC Name

phosphatidylinositol-4,5-bisphosphate 4-phosphatase 2

HGNC Previous Symbol

TMEM55A

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr8:91020199 C>G

NM_018710.3

p.C107S

c.320G>C

Tmemb_55A

exact variant not in gnomAD29 overlapping SVs

Surrounding Variants

2 papers

chr8:91020200 A>T

NM_018710.3

p.C107S

c.319T>A

Tmemb_55A

exact variant not in gnomAD29 overlapping SVs

1 paper

chr8:91020255 T>TN

NM_018710.3

p.K88fs

c.262_263fs

Tmemb_55A

exact variant not in gnomAD29 overlapping SVs

1 paper

chr8:91021257 G>A

NM_018710.3

p.T85M

c.254C>T

Tmemb_55A

Exome: 0.0% (AC=21, hom=0)Genome: 0.0% (AC=2, hom=0)28 overlapping SVs

1 paper

chr8:91021295 G>A

NM_018710.3

p.H72H

c.216C>T

Tmemb_55A

exact variant not in gnomAD28 overlapping SVs

1 paper

chr8:91021375 C>T

NM_018710.3

p.A46T

c.136G>A

Tmemb_55A

Exome: 0.0% (AC=5, hom=0)Genome: n/a28 overlapping SVs

1 paper

chr8:91018508 C>T

NM_018710.3

p.R123Q

c.368G>A

Tmemb_55A

Exome: 0.0% (AC=33, hom=0)Genome: 0.0% (AC=3, hom=0)28 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."