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

2 papers

NM_133433.4

p.R2298G

c.6892C>G

Surrounding Variants

3 papers

NM_133433.4

p.R2298S

c.6892C>A

11 papers

NM_133433.4

p.R2298C

c.6892C>T

17 papers

NM_133433.4

p.R2298H

c.6893G>A

2 papers

NM_133433.4

p.R2298P

c.6893G>C

2 papers

NM_133433.4

p.R2298L

c.6893G>T

1 paper

NM_133433.4

p.R2298delFs

c.6894delC

1 paper

NM_133433.4

p.H2299fs

c.6895_6896fs

1 paper

NM_133433.4

p.H2299fs

c.6895_6896fs

2 papers

NM_133433.4

p.S2296G

c.6886A>G

1 paper

NM_133433.4

p.S2295P

c.6883T>C

4 papers

NM_133433.4

p.Q2294*

c.6880C>T

1 paper

NM_133433.4

p.H2292insFs

c.6874_6875insT