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.Q838H

c.2514G>C

Surrounding Variants

1 paper

NM_014976.2

p.Q838H

c.2514G>T

1 paper

NM_014976.2

p.T839M

c.2516C>T

1 paper

NM_014976.2

p.E842K

c.2524G>A

1 paper

NM_014976.2

p.P845delFs

c.2534delC

1 paper

NM_014976.2

p.P845S

c.2533C>T

1 paper

NM_014976.2

p.V852A

c.2555T>C

1 paper

NM_014976.2

p.V856L

c.2566G>C

1 paper

NM_014976.2

p.V856L

c.2566G>T

1 paper

NM_014976.2

p.D859N

c.2575G>A

1 paper

NM_014976.2

p.S861F

c.2582C>T

1 paper

NM_014976.2

p.G866V

c.2597G>T

1 paper

NM_014976.2

p.H880insFs

c.2639_2640insA