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

2 papers

NM_145886.4

p.S446A

c.1336T>G

Surrounding Variants

1 paper

NM_145886.4

p.W447*

c.1340G>A

1 paper

NM_145886.4

p.W447*

c.1341G>A

1 paper

NM_145886.4

p.P481P

c.1443C>T

1 paper

NM_145886.4

p.A499T

c.1495G>A

1 paper

NM_145886.4

p.R501Q

c.1502G>A

1 paper

NM_145886.4

p.Q522fs

c.1564_1565fs

1 paper

NM_145886.4

p.Q522Q

c.1566G>A

1 paper

NM_145886.4

p.Q522delFs

c.1564_1565delTG

1 paper

NM_145886.4

p.P433S

c.1297C>T

1 paper

NM_145886.4

p.G544Splc

c.1630+9C>T

1 paper

NM_145886.4

p.D423N

c.1267G>A

3 papers

NM_145886.4

p.R416Q

c.1247G>A