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.A17S

c.49G>T

Surrounding Variants

1 paper

NM_133433.4

p.A17T

c.49G>A

2 papers

NM_133433.4

p.A17D

c.50C>A

1 paper

NM_133433.4

p.S18R

c.52A>C

1 paper

NM_133433.4

p.I16V

c.46A>G

1 paper

NM_133433.4

p.I16fs

c.46_47fs

1 paper

NM_133433.4

p.S18T

c.53G>C

1 paper

NM_133433.4

p.G15E

c.44G>A

1 paper

NM_133433.4

p.S18_L19insFs

c.54_55insA

1 paper

NM_133433.4

p.L19_T20insC

c.55_59ins3

5 papers

NM_133433.4

p.G15R

c.43G>A

5 papers

NM_133433.4

p.G15R

c.43G>C

1 paper

NM_133433.4

p.T20delFs

c.59_60delCA