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

3 papers

NM_133433.4

p.N60I

c.179A>T

Surrounding Variants

1 paper

NM_133433.4

p.N60S

c.179A>G

4 papers

NM_133433.4

p.Q64*

c.190C>T

1 paper

NM_133433.4

p.L65V

c.193C>G

1 paper

NM_133433.4

p.A55T

c.163G>A

2 papers

NM_133433.4

p.H67insFs

c.199_200insC

2 papers

NM_133433.4

p.H67fs

c.199_200fs

1 paper

NM_133433.4

p.H67R

c.200A>G

1 paper

NM_133433.4

p.L54_C56del0

c.160_168del9

2 papers

NM_133433.4

p.L53fs

c.157_158fs

1 paper

NM_133433.4

p.S68_Q71del4

c.202_212del12

1 paper

NM_133433.4

p.L53delFs

c.157delC

1 paper

NM_133433.4

p.C52insFs

c.155dupG