Varaico: Literature-Extracted Genetic Variants

Gene:PDLIM7
Variant:p.P213H

PDLIM7

180 papers

RefSeq Summary

The protein encoded by this gene is representative of a family of proteins composed of conserved PDZ and LIM domains. LIM domains are proposed to function in protein-protein recognition in a variety o...

Pfam Domains

PDZaa 3–82UCSCPDZ domain
LIMaa 282–337UCSCLIM domain
LIMaa 282–337UCSCLIM domain
LIMaa 341–396UCSCLIM domain

Gene Aliases

HGNC Name

PDZ and LIM domain 7

HGNC Alias Symbol

ENIGMA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005451.5
p.P213H
c.638C>A
Surrounding Variants
2 papers
NM_005451.5
p.G212S
c.634G>A
1 paper
NM_005451.5
p.T214T
c.642C>T
1 paper
NM_005451.5
p.A215T
c.643G>A
1 paper
NM_005451.5
p.S220I
c.659G>T
1 paper
NM_005451.5
p.R221R
c.663C>G
1 paper
NM_005451.5
p.P223L
c.668C>T
1 paper
NM_005451.5
p.V226E
c.677T>A
1 paper
NM_005451.5
p.D227N
c.679G>A
1 paper
NM_005451.5
p.A229T
c.685G>A
1 paper
NM_005451.5
p.E232K
c.694G>A
1 paper
NM_005451.5
p.P236L
c.707C>T
1 paper
NM_005451.5
p.T239M
c.716C>T
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."