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.H417Q

c.1251C>G

Surrounding Variants

1 paper

NM_014976.2

p.H417Q

c.1251C>A

1 paper

NM_014976.2

p.R420*

c.1258A>T

1 paper

NM_014976.2

p.G414E

c.1241G>A

1 paper

NM_014976.2

p.L435P

c.1304T>C

1 paper

NM_014976.2

p.V390F

c.1168G>T

2 papers

NM_014976.2

p.R354C

c.1060C>T

2 papers

NM_014976.2

p.R346C

c.1036C>T

1 paper

NM_014976.2

p.L343P

c.1028T>C

3 papers

NM_014976.2

p.V334I

c.1000G>A

1 paper

NM_014976.2

p.L469P

c.1406T>C

1 paper

NM_014976.2

p.G478S

c.1432G>A

1 paper

NM_014976.2

p.I488N

c.1463T>A