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.R505insFs

c.1513dupA

Surrounding Variants

3 papers

NM_133433.4

p.K503E

c.1507A>G

1 paper

NM_133433.4

p.R505T

c.1514G>C

1 paper

NM_133433.4

p.R505insFs

c.1514_1515insA

1 paper

NM_133433.4

p.D499Splc

c.1496-1G>A

1 paper

NM_133433.4

p.Q507R

c.1520A>G

1 paper

NM_133433.4

p.Q507H

c.1521A>C

1 paper

NM_133433.4

p.Q507H

c.1521A>T

1 paper

NM_133433.4

p.D508V

c.1523A>T

1 paper

NM_133433.4

p.D508E

c.1524T>A

1 paper

NM_133433.4

p.Q512*

c.1534C>T

3 papers

NM_133433.4

p.G516insFs

c.1546_1547insG

1 paper

NM_133433.4

p.G515W

c.1543G>T