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.E981A

c.2942A>C

Surrounding Variants

1 paper

NM_133433.4

p.M978I

c.2934G>A

1 paper

NM_133433.4

p.M978I

c.2934G>C

1 paper

NM_133433.4

p.M978I

c.2934G>T

1 paper

NM_133433.4

p.E977*

c.2929G>T

1 paper

NM_133433.4

p.K974fs

c.2920_2921fs

2 papers

NM_133433.4

p.K974delFs

c.2920_2921delAA

4 papers

NM_133433.4

p.G990delFs

c.2969delG

2 papers

NM_133433.4

p.E972delFs

c.2915delA

1 paper

NM_133433.4

p.T970_K974del5

c.2908_2921del15

4 papers

NM_133433.4

p.N968S

c.2903A>G

1 paper

NM_133433.4

p.D994G

c.2981A>G

1 paper

NM_133433.4

p.N968delFs

c.2903delA