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.I585delFs

c.1753delA

Surrounding Variants

1 paper

NM_133433.4

p.D584fs

c.1750_1751fs

1 paper

NM_133433.4

p.V586fs

c.1756_1757fs

1 paper

NM_133433.4

p.V586_T592delFs

c.1757_1776del20

1 paper

NM_133433.4

p.L581I

c.1741C>A

1 paper

NM_133433.4

p.T592_H596delFs

c.1774_1787del14

1 paper

NM_133433.4

p.D575G

c.1724A>G

1 paper

NM_133433.4

p.N595delFs

c.1784delA

1 paper

NM_133433.4

p.H596Y

c.1786C>T

1 paper

NM_133433.4

p.C573F

c.1718G>T

1 paper

NM_133433.4

p.Q572*

c.1714C>T

1 paper

NM_133433.4

p.P597L

c.1790C>T

1 paper

NM_133433.4

p.K571_D575delFs

c.1711_1723del13