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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDLIM5

Variant:p.K22R

PDLIM5

120 papers

RefSeq Summary

This gene encodes a member of a family of proteins that possess a 100-amino acid PDZ domain at the N terminus and one to three LIM domains at the C-terminus. This family member functions as a scaffold...

Pfam Domains

PDZaa 4–82UCSCPDZ domain

LIMaa 95–150UCSCLIM domain

LIMaa 154–209UCSCLIM domain

LIMaa 213–270UCSCLIM domain

Gene Aliases

HGNC Name

PDZ and LIM domain 5

HGNC Alias Symbol

Enh

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

4 papers

chr4:94455353 A>G

NM_006457.5

p.K22R

c.65A>G

PDZ

Exome: 2.2% (AC=32741, hom=437)Genome: 1.6% (AC=2511, hom=37)92 overlapping SVs

Surrounding Variants

2 papers

chr4:94455346 G>A

NM_006457.5

p.G20S

c.58G>A

PDZ

exact variant not in gnomAD92 overlapping SVs

1 paper

chr4:94455363 C>A

NM_006457.5

p.N25K

c.75C>A

PDZ

exact variant not in gnomAD92 overlapping SVs

1 paper

chr4:94455365 T>C

NM_006457.5

p.M26T

c.77T>C

PDZ

Exome: 0.0% (AC=2, hom=0)Genome: n/a92 overlapping SVs

1 paper

chr4:94455313 G>A

NM_006457.5

p.V9I

c.25G>A

PDZ

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)92 overlapping SVs

1 paper

chr4:94455311 T>A

NM_006457.5

p.L8Q

c.23T>A

PDZ

exact variant not in gnomAD92 overlapping SVs

1 paper

chr4:94455310 C>T

NM_006457.5

p.L8L

c.22C>T

PDZ

exact variant not in gnomAD92 overlapping SVs

1 paper

chr4:94455297 C>G

NM_006457.5

p.N3K

c.9C>G

PDZ

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)92 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."