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.K925delFs

c.2773_2774delAA

Surrounding Variants

1 paper

NM_133433.4

p.N924fs

c.2770_2771fs

2 papers

NM_133433.4

p.N924delFs

c.2771delA

1 paper

NM_133433.4

p.D918N

c.2752G>A

1 paper

NM_133433.4

p.S912_P913insFs

c.2734_2738dup5

4 papers

NM_133433.4

p.S943delFs

c.2827delA

1 paper

NM_133433.4

p.S943fs

c.2827_2828fs

1 paper

NM_133433.4

p.K902fs

c.2704_2705fs

1 paper

NM_133433.4

p.K902_S903delFs

c.2704_2707del4

1 paper

NM_133433.4

p.K896N

c.2688A>C

1 paper

NM_133433.4

p.K896N

c.2688A>T

1 paper

NM_133433.4

p.K954E

c.2860A>G

1 paper

NM_133433.4

p.D964_D966del3

c.2890_2897del9