Varaico: Literature-Extracted Genetic Variants

Gene:PDLIM5

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
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
RefSeq ID
Protein change
DNA change
1–12 of 66 variants
7 papers
NM_006457.5
p.S136F
c.407C>T
7 papers
NM_006457.5
p.K588K
c.1764G>A
5 papers
NM_006457.5
p.F551F
c.1653C>T
4 papers
NM_006457.5
p.K22R
c.65A>G
3 papers
NM_006457.5
p.T381A
c.1141A>G
3 papers
NM_006457.5
p.K588*
c.1762A>T
2 papers
NM_006457.5
p.G20S
c.58G>A
2 papers
NM_006457.5
p.P92L
c.275C>T
2 papers
NM_006457.5
p.Q576L
c.1727A>T
1 paper
NM_006457.5
p.N3K
c.9C>G
1 paper
NM_006457.5
p.L8L
c.22C>T
1 paper
NM_006457.5
p.L8Q
c.23T>A
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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."