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

2 papers

NM_133433.4

p.Q1737_F1738insFs

c.5211_5212insT

Surrounding Variants

1 paper

NM_133433.4

p.Q1737fs

c.5209_5210fs

1 paper

NM_133433.4

p.T1740fs

c.5218_5219fs

1 paper

NM_133433.4

p.S1736_L1741delFs

c.5207_5222del16

1 paper

NM_133433.4

p.T1740delFs

c.5220delA

1 paper

NM_133433.4

p.K1742Splc

c.5225+3A>C

1 paper

NM_133433.4

p.S1729fs

c.5185_5186fs

1 paper

NM_133433.4

p.K1725fs

c.5173_5174fs

1 paper

NM_133433.4

p.R1723insFs

c.5168_5169insA

1 paper

NM_133433.4

p.K1725delFs

c.5174delA

1 paper

NM_133433.4

p.R1723fs

c.5167_5168fs

9 papers

NM_133433.4

p.R1723*

c.5167C>T

1 paper

NM_133433.4

p.N1722H

c.5164A>C