Varaico: Literature-Extracted Genetic Variants

Gene:PDZRN4
Variant:p.R48Q

PDZRN4

92 papers

Pfam Domains

zf-C3HC4_2aa 17–56UCSCZinc finger, C3HC4 type (RING finger)
PDZaa 224–311UCSCPDZ domain
PDZaa 402–485UCSCPDZ domain

Gene Aliases

HGNC Name

PDZ domain containing ring finger 4

HGNC Alias Symbols

DKFZp434B0417; LNX4; FLJ33777; IMAGE5767589

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001164595.2
p.R48Q
c.143G>A
Surrounding Variants
1 paper
NM_001164595.2
p.L59V
c.175T>G
1 paper
NM_001164595.2
p.P61T
c.181C>A
1 paper
NM_001164595.2
p.E63fs
c.187_188fs
1 paper
NM_001164595.2
p.L29L
c.87G>A
1 paper
NM_001164595.2
p.R71fs
c.211_212fs
1 paper
NM_001164595.2
p.R71H
c.212G>A
1 paper
NM_001164595.2
p.G87A
c.260G>C
2 papers
NM_001164595.2
p.V92delFs
c.274_275delGT
1 paper
NM_001164595.2
p.R110R
c.330C>T
1 paper
NM_001164595.2
p.R111R
c.333G>C
1 paper
NM_001164595.2
p.G116delFs
c.346delG
4 papers
NM_001164595.2
p.G116R
c.346G>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."