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

1–12 of 161 variants

6 papers

NM_014976.2

p.K45E

c.133A>G

3 papers

NM_014976.2

p.V334I

c.1000G>A

3 papers

NM_014976.2

p.L1216F

c.3646C>T

3 papers

NM_014976.2

p.M1804L

c.5410A>C

3 papers

NM_014976.2

p.M1804L

c.5410A>T

3 papers

NM_014976.2

p.D1871A

c.5612A>C

2 papers

NM_014976.2

p.N249N

c.747C>T

2 papers

NM_014976.2

p.T264M

c.791C>T

2 papers

NM_014976.2

p.R346C

c.1036C>T

2 papers

NM_014976.2

p.R354C

c.1060C>T

2 papers

NM_014976.2

p.P541S

c.1621C>T

2 papers

NM_014976.2

p.Q684*

c.2050C>T