Varaico: Literature-Extracted Genetic Variants

Gene:PDLIM7
Variant:p.L8delins

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.L8delins
c.22delinsA
Surrounding Variants
1 paper
NM_005451.5
p.L8L
c.24G>T
1 paper
NM_005451.5
p.V7L
c.19G>T
1 paper
NM_005451.5
p.F4insFs
c.12dupC
1 paper
NM_005451.5
p.F4C
c.11T>G
1 paper
NM_005451.5
p.A12S
c.34G>T
1 paper
NM_005451.5
p.P13T
c.37C>A
1 paper
NM_005451.5
p.D2N
c.4G>A
1 paper
NM_005451.5
p.M1I
c.3G>T
1 paper
NM_005451.5
p.M1insFs
c.2dupT
1 paper
NM_005451.5
p.M1I
c.3G>A
1 paper
NM_005451.5
p.M1insFs
c.1dupA
2 papers
NM_005451.5
p.M1R
c.2T>G
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."