Varaico: Literature-Extracted Genetic Variants

Gene:PDLIM7
Variant:p.H361R

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
2 papers
NM_005451.5
p.H361R
c.1082A>G
Surrounding Variants
1 paper
NM_005451.5
p.H363Y
c.1087C>T
1 paper
NM_005451.5
p.T366A
c.1096A>G
1 paper
NM_005451.5
p.L356L
c.1066C>T
1 paper
NM_005451.5
p.A368P
c.1102G>C
1 paper
NM_005451.5
p.I352M
c.1056C>G
1 paper
NM_005451.5
p.C370Y
c.1109G>A
1 paper
NM_005451.5
p.I352V
c.1054A>G
1 paper
NM_005451.5
p.E351D
c.1053G>T
1 paper
NM_005451.5
p.E351D
c.1053G>C
1 paper
NM_005451.5
p.E351A
c.1052A>C
1 paper
NM_005451.5
p.T372P
c.1114A>C
1 paper
NM_005451.5
p.T372M
c.1115C>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."