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.K1018E

c.3052A>G

Surrounding Variants

1 paper

NM_133433.4

p.I1017L

c.3049A>C

1 paper

NM_133433.4

p.D1019H

c.3055G>C

6 papers

NM_133433.4

p.R1020_E1021delFs

c.3060_3063del4

1 paper

NM_133433.4

p.L1016delFs

c.3047_3048delTT

3 papers

NM_133433.4

p.E1021fs

c.3061_3062fs

1 paper

NM_133433.4

p.K1023R

c.3068A>G

1 paper

NM_133433.4

p.S1024*

c.3071C>A

1 paper

NM_133433.4

p.S1024*

c.3071C>G

1 paper

NM_133433.4

p.K1007fs

c.3019_3020fs

1 paper

NM_133433.4

p.K1007delFs

c.3021delA

1 paper

NM_133433.4

p.K1034_S1036delFs

c.3100_3106del7

1 paper

NM_133433.4

p.N1039_K1040delFs

c.3117_3120del4