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.V669delFs

c.2007delT

Surrounding Variants

1 paper

NM_133433.4

p.I668T

c.2003T>C

1 paper

NM_133433.4

p.S666T

c.1997G>C

8 papers

NM_133433.4

p.N674S

c.2021A>G

1 paper

NM_133433.4

p.K662*

c.1984A>T

1 paper

NM_133433.4

p.S679A

c.2035T>G

1 paper

NM_133433.4

p.E650D

c.1950A>T

1 paper

NM_133433.4

p.T648A

c.1942A>G

1 paper

NM_133433.4

p.R692*

c.2074A>T

1 paper

NM_133433.4

p.E645delFs

c.1934delA

1 paper

NM_133433.4

p.E694G

c.2081A>G

1 paper

NM_133433.4

p.K643E

c.1927A>G

1 paper

NM_133433.4

p.K697E

c.2089A>G