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.P567fs

c.1699_1700fs

Surrounding Variants

1 paper

NM_133433.4

p.K566fs

c.1696_1697fs

1 paper

NM_133433.4

p.K566delFs

c.1697delA

1 paper

NM_133433.4

p.K571_Q572delFs

c.1713_1716del4

1 paper

NM_133433.4

p.K571_D575delFs

c.1711_1723del13

1 paper

NM_133433.4

p.Q572*

c.1714C>T

1 paper

NM_133433.4

p.C573F

c.1718G>T

1 paper

NM_133433.4

p.D575G

c.1724A>G

1 paper

NM_133433.4

p.T558fs

c.1672_1673fs

1 paper

NM_133433.4

p.I557insFs

c.1670_1671insC

1 paper

NM_133433.4

p.T558delFs

c.1672delA

1 paper

NM_133433.4

p.I557insFs

c.1669_1670insC

2 papers

NM_133433.4

p.A555T

c.1663G>A