Varaico: Literature-Extracted Genetic Variants

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.Q331*

c.991C>T

Surrounding Variants

3 papers

NM_145886.4

p.Q331R

c.992A>G

1 paper

NM_145886.4

p.T352T

c.1056C>T

1 paper

NM_145886.4

p.T355del1

c.1063_1064delGGT

1 paper

NM_145886.4

p.R359G

c.1075C>G

1 paper

NM_145886.4

p.V368I

c.1102G>A

1 paper

NM_145886.4

p.E382*

c.1144G>T

1 paper

NM_145886.4

p.Q392*

c.1174C>T

1 paper

NM_145886.4

p.P306L

c.917C>T

1 paper

NM_145886.4

p.E297D

c.891G>T

1 paper

NM_145886.4

p.Q291*

c.871C>T

1 paper

NM_145886.4

p.L290L

c.870G>T

3 papers

NM_145886.4

p.R416Q

c.1247G>A