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

4 papers

NM_133433.4

p.R808*

c.2422C>T

Surrounding Variants

1 paper

NM_133433.4

p.S809delFs

c.2425_2426delTC

1 paper

NM_133433.4

p.S809fs

c.2425_2426fs

1 paper

NM_133433.4

p.V810_S811delFs

c.2429_2432del4

1 paper

NM_133433.4

p.V810V

c.2430T>C

1 paper

NM_133433.4

p.R804_P805delins

c.2412_2413delinsGA

1 paper

NM_133433.4

p.E812insFs

c.2435_2436insA

1 paper

NM_133433.4

p.E812fs

c.2434_2435fs

1 paper

NM_133433.4

p.Q803_R804delFs

c.2408_2412del5

1 paper

NM_133433.4

p.S813fs

c.2437_2438fs

1 paper

NM_133433.4

p.R816_D817del2

c.2446_2450del6

2 papers

NM_133433.4

p.R816G

c.2446C>G

1 paper

NM_133433.4

p.R816H

c.2447G>A