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.L2215fs

c.6643_6644fs

Surrounding Variants

1 paper

NM_133433.4

p.L2215Q

c.6644T>A

1 paper

NM_133433.4

p.L2215delFs

c.6643_6644delCT

11 papers

NM_133433.4

p.N2218_I2219del1

c.6653_6655delATA

5 papers

NM_133433.4

p.Y2216S

c.6647A>C

7 papers

NM_133433.4

p.Y2216C

c.6647A>G

1 paper

NM_133433.4

p.V2212E

c.6635T>A

1 paper

NM_133433.4

p.L2220*

c.6659T>A

1 paper

NM_133433.4

p.L2220*

c.6659T>G

1 paper

NM_133433.4

p.M2207I

c.6621G>A

2 papers

NM_133433.4

p.M2207T

c.6620T>C

4 papers

NM_133433.4

p.S2226_V2227delFs

c.6676_6679del4

1 paper

NM_133433.4

p.I2231insFs

c.6691dupA