Varaico: Literature-Extracted Genetic Variants

Gene:PIDD1
Variant:p.N116H

PIDD1

87 papers

RefSeq Summary

The protein encoded by this gene contains a leucine-rich repeat and a death domain. This protein has been shown to interact with other death domain proteins, such as Fas (TNFRSF6)-associated via death...

Pfam Domains

LRR_8aa 125–183UCSCLeucine rich repeat
LRR_8aa 172–229UCSCLeucine rich repeat
LRR_8aa 194–252UCSCLeucine rich repeat
ZU5aa 324–417UCSCZU5 domain
Peptidase_S68aa 421–453UCSCPeptidase S68
ZU5aa 457–543UCSCZU5 domain

Gene Aliases

HGNC Name

p53-induced death domain protein 1

HGNC Previous Symbol

LRDD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_145886.4
p.N116H
c.346A>C
Surrounding Variants
1 paper
NM_145886.4
p.N116N
c.348C>T
1 paper
NM_145886.4
p.R102R
c.306C>G
1 paper
NM_145886.4
p.S136I
c.407G>T
1 paper
NM_145886.4
p.A152V
c.455C>T
1 paper
NM_145886.4
p.L170F
c.508C>T
1 paper
NM_145886.4
p.R182H
c.545G>A
1 paper
NM_145886.4
p.D200N
c.598G>A
1 paper
NM_145886.4
p.A237Splc
c.710-126T>C
1 paper
NM_145886.4
p.L59V
c.175C>G
1 paper
NM_145886.4
p.R261C
c.781C>T
1 paper
NM_145886.4
p.G45E
c.134G>A
1 paper
NM_145886.4
p.L270L
c.810G>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."