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.Q590*

c.1768C>T

Surrounding Variants

1 paper

NM_014976.2

p.R584K

c.1751G>A

1 paper

NM_014976.2

p.P582L

c.1745C>T

2 papers

NM_014976.2

p.P541S

c.1621C>T

1 paper

NM_014976.2

p.K523E

c.1567A>G

1 paper

NM_014976.2

p.L607F

c.1819C>T

1 paper

NM_014976.2

p.P618_K619ins3

c.1854_1855ins9

1 paper

NM_014976.2

p.Q637_L638Splc

c.1912-139G>C

1 paper

NM_014976.2

p.K496del1

c.1486_1487delAAG

1 paper

NM_014976.2

p.P493P

c.1479G>A

1 paper

NM_014976.2

p.I488N

c.1463T>A

1 paper

NM_014976.2

p.G478S

c.1432G>A

1 paper

NM_014976.2

p.L469P

c.1406T>C