Varaico: Literature-Extracted Genetic Variants

Gene:PIDD1
Variant:p.V706_T707delFs

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
1 paper
NM_145886.4
p.V706_T707delFs
c.2116_2120del5
Surrounding Variants
1 paper
NM_145886.4
p.V706fs
c.2116_2117fs
1 paper
NM_145886.4
p.L710delFs
c.2129_2130delCA
1 paper
NM_145886.4
p.R712W
c.2134C>T
3 papers
NM_145886.4
p.R682C
c.2044C>T
4 papers
NM_145886.4
p.D681Splc
c.2042-2A>G
1 paper
NM_145886.4
p.V721M
c.2161G>A
1 paper
NM_145886.4
p.P729S
c.2185C>T
2 papers
NM_145886.4
p.E737Q
c.2209G>C
1 paper
NM_145886.4
p.I676I
c.2028C>T
1 paper
NM_145886.4
p.R674H
c.2021G>A
1 paper
NM_145886.4
p.M662I
c.1986G>T
1 paper
NM_145886.4
p.M662I
c.1986G>C
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