Varaico: Literature-Extracted Genetic Variants

NIPBL

645 papers

RefSeq Summary

This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communi...

Pfam Domains

Cohesin_HEATaa 1794–1835UCSCHEAT repeat associated with sister chromatid cohesion

Nipped-B_Caa 2275–2456UCSCSister chromatid cohesion C-terminus

Gene Aliases

HGNC Name

NIPBL cohesin loading factor

HGNC Alias Symbols

IDN3; DKFZp434L1319; FLJ11203; FLJ12597; FLJ13354; FLJ13648; Scc2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_133433.4

p.G753delFs

c.2259delG

Surrounding Variants

1 paper

NM_133433.4

p.R754*

c.2260C>T

1 paper

NM_133433.4

p.N751_E752insA

c.2251_2255ins3

2 papers

NM_133433.4

p.N751fs

c.2251_2252fs

2 papers

NM_133433.4

p.N751insFs

c.2252dupA

1 paper

NM_133433.4

p.N751delFs

c.2252delA

1 paper

NM_133433.4

p.K748_Q749insFs

c.2244_2245insA

1 paper

NM_133433.4

p.T757delFs

c.2270delC

1 paper

NM_133433.4

p.P747S

c.2239C>T

1 paper

NM_133433.4

p.N764insFs

c.2291_2292insC

4 papers

NM_133433.4

p.R765K

c.2294G>A

1 paper

NM_133433.4

p.R766delFs

c.2296delA

1 paper

NM_133433.4

p.R766fs

c.2296_2297fs