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.L40F

c.118C>T

Surrounding Variants

1 paper

NM_133433.4

p.T37K

c.110C>A

1 paper

NM_133433.4

p.T36S

c.107C>G

1 paper

NM_133433.4

p.T36S

c.106A>T

1 paper

NM_133433.4

p.T35A

c.103A>G

1 paper

NM_133433.4

p.R45G

c.133C>G

13 papers

NM_133433.4

p.R45*

c.133C>T

1 paper

NM_133433.4

p.A34V

c.101C>T

1 paper

NM_133433.4

p.A47G

c.140C>G

1 paper

NM_133433.4

p.E48_E49delFs

c.143_147del5

1 paper

NM_133433.4

p.E48*

c.142G>T

1 paper

NM_133433.4

p.E48fs

c.142_143fs

1 paper

NM_133433.4

p.E48G

c.143A>G