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.G529del1

c.1585_1587delGGT

Surrounding Variants

1 paper

NM_133433.4

p.G534R

c.1600G>C

1 paper

NM_133433.4

p.T518I

c.1553C>T

1 paper

NM_133433.4

p.A517V

c.1550C>T

1 paper

NM_133433.4

p.M540I

c.1620G>A

1 paper

NM_133433.4

p.M540I

c.1620G>C

1 paper

NM_133433.4

p.M540I

c.1620G>T

1 paper

NM_133433.4

p.G516Fs

c.1548delinsTCFs

1 paper

NM_133433.4

p.G515W

c.1543G>T

3 papers

NM_133433.4

p.G516insFs

c.1546_1547insG

1 paper

NM_133433.4

p.L545delFs

c.1635delT

1 paper

NM_133433.4

p.Q512*

c.1534C>T

1 paper

NM_133433.4

p.D508E

c.1524T>A