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.Q1708_E1709Splc

c.5124+71T>C

Surrounding Variants

1 paper

NM_014976.2

p.Y1714*

c.5142C>A

1 paper

NM_014976.2

p.Y1714*

c.5142C>G

1 paper

NM_014976.2

p.R1720C

c.5158C>T

1 paper

NM_014976.2

p.R1722L

c.5165G>T

1 paper

NM_014976.2

p.R1737Q

c.5210G>A

1 paper

NM_014976.2

p.H1760Splc

c.5278+1G>A

1 paper

NM_014976.2

p.R1652S

c.4956A>C

1 paper

NM_014976.2

p.R1652S

c.4956A>T

1 paper

NM_014976.2

p.L1646H

c.4937T>A

1 paper

NM_014976.2

p.R1639C

c.4915C>T

1 paper

NM_014976.2

p.L1621V

c.4861C>G

2 papers

NM_014976.2

p.R1610L

c.4829G>T