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.A1538T

c.4612G>A

Surrounding Variants

10 papers

NM_133433.4

p.R1536*

c.4606C>T

2 papers

NM_133433.4

p.Y1531*

c.4593T>A

2 papers

NM_133433.4

p.Y1531*

c.4593T>G

1 paper

NM_133433.4

p.L1546delFs

c.4636delC

1 paper

NM_133433.4

p.L1546_K1547insG

c.4636_4640ins3

1 paper

NM_133433.4

p.K1548Splc

c.4643+1G>C

1 paper

NM_133433.4

p.Q1523R

c.4568A>G

1 paper

NM_133433.4

p.Q1523*

c.4567C>T

1 paper

NM_133433.4

p.Q1523delFs

c.4567delC

1 paper

NM_133433.4

p.I1521fs

c.4561_4562fs

1 paper

NM_133433.4

p.K1520_I1521Splc

c.4561-2A>G

1 paper

NM_133433.4

p.K1520_I1521Splc

c.4561-9T>A