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

3 papers

NM_133433.4

p.R827delFs

c.2479delA

Surrounding Variants

16 papers

NM_133433.4

p.R827delFs

c.2479_2480delAG

1 paper

NM_133433.4

p.R827fs

c.2479_2480fs

1 paper

NM_133433.4

p.D826G

c.2477A>G

8 papers

NM_133433.4

p.R827fs

c.2479_2480fs

1 paper

NM_133433.4

p.D825H

c.2473G>C

1 paper

NM_133433.4

p.S824L

c.2471C>T

1 paper

NM_133433.4

p.E829fs

c.2485_2486fs

1 paper

NM_133433.4

p.E831fs

c.2491_2492fs

1 paper

NM_133433.4

p.E831_R832del1

c.2493_2495delGCG

1 paper

NM_133433.4

p.Q822fs

c.2464_2465fs

7 papers

NM_133433.4

p.R832*

c.2494C>T

1 paper

NM_133433.4

p.K821_Q822delFs

c.2461_2464del4