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.R1789P

c.5366G>C

Surrounding Variants

3 papers

NM_133433.4

p.R1789Q

c.5366G>A

6 papers

NM_133433.4

p.R1789L

c.5366G>T

3 papers

NM_133433.4

p.R1789G

c.5365C>G

2 papers

NM_133433.4

p.M1793K

c.5378T>A

1 paper

NM_133433.4

p.M1793R

c.5378T>G

2 papers

NM_133433.4

p.L1796insFs

c.5387_5388insTT

2 papers

NM_133433.4

p.L1796fs

c.5386_5387fs

1 paper

NM_133433.4

p.L1796*

c.5387T>A

1 paper

NM_133433.4

p.E1798Q

c.5392G>C

1 paper

NM_133433.4

p.R1779*

c.5335C>T

1 paper

NM_133433.4

p.V1800D

c.5399T>A

1 paper

NM_133433.4

p.L1778V

c.5332C>G