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.S780F

c.2339C>T

Surrounding Variants

1 paper

NM_133433.4

p.K781*

c.2341A>T

1 paper

NM_133433.4

p.Q784*

c.2350C>T

1 paper

NM_133433.4

p.K776fs

c.2326_2327fs

1 paper

NM_133433.4

p.D785H

c.2353G>C

3 papers

NM_133433.4

p.K775R

c.2324A>G

1 paper

NM_133433.4

p.K776insFs

c.2328dupA

2 papers

NM_133433.4

p.E774_K775delFs

c.2322_2323delGA

1 paper

NM_133433.4

p.T773fs

c.2317_2318fs

2 papers

NM_133433.4

p.P791delFs

c.2372delC

1 paper

NM_133433.4

p.R792L

c.2375G>T

1 paper

NM_133433.4

p.R766fs

c.2296_2297fs

1 paper

NM_133433.4

p.R766delFs

c.2296delA