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

3 papers

NM_133433.4

p.K717delFs

c.2149_2150delAA

Surrounding Variants

2 papers

NM_133433.4

p.Q716fs

c.2146_2147fs

2 papers

NM_133433.4

p.Q716*

c.2146C>T

1 paper

NM_133433.4

p.K717fs

c.2149_2150fs

2 papers

NM_133433.4

p.P711S

c.2131C>T

1 paper

NM_133433.4

p.E708*

c.2122G>T

1 paper

NM_133433.4

p.K726delFs

c.2178delA

1 paper

NM_133433.4

p.K706delFs

c.2118delG

1 paper

NM_133433.4

p.K706fs

c.2116_2117fs

1 paper

NM_133433.4

p.Q727_K728del2

c.2179_2183del6

1 paper

NM_133433.4

p.K706insFs

c.2116_2117dupAA

1 paper

NM_133433.4

p.K704delFs

c.2112delG

1 paper

NM_133433.4

p.Q727H

c.2181G>C