Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDLIM5

Variant:p.T381A

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

chr4:94640308 A>G

NM_006457.5

p.T381A

c.1141A>G

NM_001011513.4

p.T272A

c.814A>G

Exome: 42.7% (AC=621113, hom=136396)Genome: 36.7% (AC=55810, hom=11293)93 overlapping SVs

Surrounding Variants

1 paper

chr4:94640329 C>T

NM_006457.5

p.P388S

c.1162C>T

Exome: 0.0% (AC=717, hom=5)Genome: 0.5% (AC=744, hom=3)93 overlapping SVs

1 paper

chr4:94640287 G>A

NM_006457.5

p.G374R

c.1120G>A

exact variant not in gnomAD93 overlapping SVs

1 paper

chr4:94640331 A>G

NM_001256425.2

p.P63_A64delins

c.189_190delinsGG

Exome: 0.0% (AC=0, hom=0)Genome: n/a93 overlapping SVs

1 paper

chr4:94640862 G>A

NM_001011513.4

p.R319Splc

c.956+412G>A

Exome: n/aGenome: 36.6% (AC=55655, hom=11208)93 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."