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.N852S

c.2555A>G

Surrounding Variants

1 paper

NM_133433.4

p.I856V

c.2566A>G

1 paper

NM_133433.4

p.K857*

c.2569A>T

1 paper

NM_133433.4

p.T863insFs

c.2587_2588insA

2 papers

NM_133433.4

p.R841*

c.2521C>T

1 paper

NM_133433.4

p.D864N

c.2590G>A

1 paper

NM_133433.4

p.D864G

c.2591A>G

2 papers

NM_133433.4

p.V840delFs

c.2520delT

1 paper

NM_133433.4

p.E867K

c.2599G>A

1 paper

NM_133433.4

p.Q837*

c.2509C>T

5 papers

NM_133433.4

p.R868*

c.2602C>T

4 papers

NM_133433.4

p.R868Q

c.2603G>A

3 papers

NM_133433.4

p.R834*

c.2500C>T