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.M2267I

c.6801G>T

Surrounding Variants

1 paper

NM_133433.4

p.M2267I

c.6801G>A

1 paper

NM_133433.4

p.M2267I

c.6801G>C

1 paper

NM_133433.4

p.G2268delFs

c.6803delG

1 paper

NM_133433.4

p.G2273R

c.6817G>A

1 paper

NM_133433.4

p.G2273R

c.6817G>C

1 paper

NM_133433.4

p.G2273G

c.6819G>T

1 paper

NM_133433.4

p.Q2280*

c.6838C>T

1 paper

NM_133433.4

p.Q2280R

c.6839A>G

1 paper

NM_133433.4

p.Y2282C

c.6845A>G

1 paper

NM_133433.4

p.K2284delFs

c.6852delA

1 paper

NM_133433.4

p.Q2285delFs

c.6854_6855delAG

1 paper

NM_133433.4

p.Q2285fs

c.6853_6854fs