Varaico: Literature-Extracted Genetic Variants

PDCD11

141 papers

RefSeq Summary

PDCD11 is a NF-kappa-B (NFKB1; 164011)-binding protein that colocalizes with U3 RNA (MIM 180710) in the nucleolus and is required for rRNA maturation and generation of 18S rRNA (Sweet et al., 2003 [Pu...

Pfam Domains

S1_RRP5aa 80–170UCSCRRP5 S1 domain

S1_RRP5aa 278–345UCSCRRP5 S1 domain

S1_RRP5aa 367–435UCSCRRP5 S1 domain

S1aa 449–522UCSCS1 RNA binding domain

S1aa 540–611UCSCS1 RNA binding domain

S1_RRP5aa 726–797UCSCRRP5 S1 domain

Gene Aliases

HGNC Name

programmed cell death 11

HGNC Alias Symbols

KIAA0185; ALG-4; RRP5; NFBP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014976.2

p.V90M

c.268G>A

Surrounding Variants

1 paper

NM_014976.2

p.C89R

c.265T>C

1 paper

NM_014976.2

p.G108fs

c.322_323fs

1 paper

NM_014976.2

p.A118S

c.352G>T

1 paper

NM_014976.2

p.S144L

c.431C>T

1 paper

NM_014976.2

p.P145P

c.435T>A

1 paper

NM_014976.2

p.P145P

c.435T>C

1 paper

NM_014976.2

p.G157R

c.469G>C

1 paper

NM_014976.2

p.K164E

c.490A>G

1 paper

NM_014976.2

p.P186_G187delins

c.558_559delinsTG

1 paper

NM_014976.2

p.T54K

c.161C>A

6 papers

NM_014976.2

p.K45E

c.133A>G

1 paper

NM_014976.2

p.G210E

c.629G>A