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.P1251P

c.3753C>T

Surrounding Variants

2 papers

NM_014976.2

p.V1240L

c.3718G>C

2 papers

NM_014976.2

p.V1240L

c.3718G>T

1 paper

NM_014976.2

p.E1269K

c.3805G>A

1 paper

NM_014976.2

p.T1270M

c.3809C>T

1 paper

NM_014976.2

p.A1233T

c.3697G>A

1 paper

NM_014976.2

p.K1226N

c.3678G>C

1 paper

NM_014976.2

p.K1226N

c.3678G>T

1 paper

NM_014976.2

p.L1216P

c.3647T>C

3 papers

NM_014976.2

p.L1216F

c.3646C>T

1 paper

NM_014976.2

p.D1194N

c.3580G>A

1 paper

NM_014976.2

p.R1175Q

c.3524G>A

1 paper

NM_014976.2

p.G1176delFs

c.3528delG