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.T1684delFs

c.5051_5052delCA

Surrounding Variants

1 paper

NM_133433.4

p.R1682Q

c.5045G>A

3 papers

NM_133433.4

p.R1682*

c.5044C>T

1 paper

NM_133433.4

p.T1684K

c.5051C>A

1 paper

NM_133433.4

p.T1685I

c.5054C>T

1 paper

NM_133433.4

p.W1680*

c.5040G>A

1 paper

NM_133433.4

p.W1680*

c.5039G>A

1 paper

NM_133433.4

p.L1686delFs

c.5057delT

1 paper

NM_133433.4

p.L1686fs

c.5056_5057fs

2 papers

NM_133433.4

p.I1677fs

c.5029_5030fs

1 paper

NM_133433.4

p.Y1676C

c.5027A>G

1 paper

NM_133433.4

p.K1690E

c.5068A>G

1 paper

NM_133433.4

p.K1690R

c.5069A>G