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.V50G

c.149T>G

Surrounding Variants

3 papers

NM_133433.4

p.V50delFs

c.150delG

1 paper

NM_133433.4

p.N51H

c.151A>C

1 paper

NM_133433.4

p.E49K

c.145G>A

1 paper

NM_133433.4

p.C52insFs

c.155dupG

1 paper

NM_133433.4

p.C52fs

c.154_155fs

1 paper

NM_133433.4

p.E48G

c.143A>G

1 paper

NM_133433.4

p.L53delFs

c.157delC

1 paper

NM_133433.4

p.E48*

c.142G>T

1 paper

NM_133433.4

p.E48fs

c.142_143fs

2 papers

NM_133433.4

p.L53fs

c.157_158fs

1 paper

NM_133433.4

p.A47G

c.140C>G

1 paper

NM_133433.4

p.E48_E49delFs

c.143_147del5