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.N24S

c.71A>G

Surrounding Variants

1 paper

NM_133433.4

p.L23_N24delFs

c.68_71del4

2 papers

NM_133433.4

p.L22Splc

c.65-1G>A

1 paper

NM_133433.4

p.L22Splc

c.65-3T>G

8 papers

NM_133433.4

p.L22Splc

c.65-5A>G

1 paper

NM_133433.4

p.P29delFs

c.86delC

1 paper

NM_133433.4

p.P29fs

c.85_86fs

5 papers

NM_133433.4

p.P29Q

c.86C>A

1 paper

NM_133433.4

p.P29P

c.87A>C

1 paper

NM_133433.4

p.S30A

c.88T>G

1 paper

NM_133433.4

p.S30delFs

c.89delC

1 paper

NM_133433.4

p.S30S

c.90T>C

1 paper

NM_133433.4

p.P31insFs

c.92_93insT