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.K603Q

c.1807A>C

Surrounding Variants

1 paper

NM_133433.4

p.K603fs

c.1807_1808fs

2 papers

NM_133433.4

p.K603fs

c.1807_1808fs

4 papers

NM_133433.4

p.K601fs

c.1801_1802fs

1 paper

NM_133433.4

p.K603insFs

c.1808dupA

8 papers

NM_133433.4

p.K601delFs

c.1801delA

1 paper

NM_133433.4

p.E607_L608delFs

c.1821_1824del4

1 paper

NM_133433.4

p.P597L

c.1790C>T

1 paper

NM_133433.4

p.K610*

c.1828A>T

1 paper

NM_133433.4

p.H596Y

c.1786C>T

1 paper

NM_133433.4

p.S611C

c.1831A>T

1 paper

NM_133433.4

p.N595delFs

c.1784delA

1 paper

NM_133433.4

p.T592_H596delFs

c.1774_1787del14