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

4 papers

NM_133433.4

p.F1442fs

c.4324_4325fs

Surrounding Variants

9 papers

NM_133433.4

p.V1441L

c.4321G>C

13 papers

NM_133433.4

p.V1441L

c.4321G>T

1 paper

NM_133433.4

p.A1440_V1441Splc

c.4321-1G>A

1 paper

NM_133433.4

p.Y1445_H1448del4

c.4333_4343del12

1 paper

NM_133433.4

p.A1440_V1441Splc

c.4321-35T>C

3 papers

NM_133433.4

p.S1459*

c.4376C>A

3 papers

NM_133433.4

p.S1459*

c.4376C>G

2 papers

NM_133433.4

p.S1466insFs

c.4396dupA

2 papers

NM_133433.4

p.S1466fs

c.4396_4397fs

1 paper

NM_133433.4

p.K1467E

c.4399A>G

1 paper

NM_133433.4

p.K1467*

c.4399A>T

1 paper

NM_133433.4

p.F1473insFs

c.4419dupC