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.Q738*

c.2212C>T

Surrounding Variants

1 paper

NM_133433.4

p.Q738fs

c.2212_2213fs

1 paper

NM_133433.4

p.K737*

c.2209A>T

1 paper

NM_133433.4

p.P736S

c.2206C>T

1 paper

NM_133433.4

p.P736_K737delFs

c.2207_2211del5

1 paper

NM_133433.4

p.T735I

c.2204C>T

4 papers

NM_133433.4

p.D730V

c.2189A>T

1 paper

NM_133433.4

p.P747S

c.2239C>T

1 paper

NM_133433.4

p.Q727H

c.2181G>C

1 paper

NM_133433.4

p.Q727H

c.2181G>T

1 paper

NM_133433.4

p.K748_Q749insFs

c.2244_2245insA

2 papers

NM_133433.4

p.N751insFs

c.2252dupA

1 paper

NM_133433.4

p.N751delFs

c.2252delA