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

1–12 of 1280 variants

17 papers

NM_133433.4

p.R2298H

c.6893G>A

16 papers

NM_133433.4

p.R827delFs

c.2479_2480delAG

13 papers

NM_133433.4

p.R45*

c.133C>T

13 papers

NM_133433.4

p.V1441L

c.4321G>T

12 papers

NM_133433.4

p.L22Splc

c.64+1G>A

11 papers

NM_133433.4

p.Q1776_I1777Splc

c.5329-15A>G

11 papers

NM_133433.4

p.N2218_I2219del1

c.6653_6655delATA

11 papers

NM_133433.4

p.R2298C

c.6892C>T

10 papers

NM_133433.4

p.R797*

c.2389C>T

10 papers

NM_133433.4

p.R1536*

c.4606C>T

9 papers

NM_133433.4

p.V1441L

c.4321G>C

9 papers

NM_133433.4

p.R1723*

c.5167C>T