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.T648A

c.1942A>G

Surrounding Variants

1 paper

NM_133433.4

p.E650D

c.1950A>T

1 paper

NM_133433.4

p.E645delFs

c.1934delA

1 paper

NM_133433.4

p.K643E

c.1927A>G

1 paper

NM_133433.4

p.E641*

c.1921G>T

1 paper

NM_133433.4

p.L640I

c.1918T>A

1 paper

NM_133433.4

p.S635insFs

c.1903_1904insA

1 paper

NM_133433.4

p.S635fs

c.1903_1904fs

1 paper

NM_133433.4

p.S635_S636delFs

c.1903_1907del5

1 paper

NM_133433.4

p.K662*

c.1984A>T

2 papers

NM_133433.4

p.K634_S635insFs

c.1902_1903insA

1 paper

NM_133433.4

p.S666T

c.1997G>C

1 paper

NM_133433.4

p.R629Q

c.1886G>A