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.R637*

c.1909C>T

Surrounding Variants

1 paper

NM_145886.4

p.K639N

c.1917G>T

1 paper

NM_145886.4

p.K639N

c.1917G>C

1 paper

NM_145886.4

p.K639_V640Splc

c.1917+10C>T

1 paper

NM_145886.4

p.D626G

c.1877A>G

1 paper

NM_145886.4

p.R625Q

c.1874G>A

1 paper

NM_145886.4

p.G602fs

c.1804_1805fs

1 paper

NM_145886.4

p.G602delFs

c.1804_1805delCC

1 paper

NM_145886.4

p.V640M

c.1918G>A

1 paper

NM_145886.4

p.G602fs

c.1804_1805fs

1 paper

NM_145886.4

p.R652W

c.1954C>T

1 paper

NM_145886.4

p.W589*

c.1767G>A

1 paper

NM_145886.4

p.W589*

c.1766G>A