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.F1835del1

c.5503_5504delTTC

Surrounding Variants

2 papers

NM_014976.2

p.K1829R

c.5486A>G

1 paper

NM_014976.2

p.R1837G

c.5509C>G

1 paper

NM_014976.2

p.R1837H

c.5510G>A

1 paper

NM_014976.2

p.V1821L

c.5461G>C

1 paper

NM_014976.2

p.R1820Q

c.5459G>A

1 paper

NM_014976.2

p.V1854_K1855ins9

c.5560_5564ins27

1 paper

NM_014976.2

p.E1860A

c.5579A>C

1 paper

NM_014976.2

p.S1866T

c.5597G>C

3 papers

NM_014976.2

p.D1871A

c.5612A>C

1 paper

NM_014976.2

p.*1872S

c.5615A>C

3 papers

NM_014976.2

p.M1804L

c.5410A>C

3 papers

NM_014976.2

p.M1804L

c.5410A>T