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.L2241P

c.6722T>C

Surrounding Variants

1 paper

NM_133433.4

p.E2244_D2245insA

c.6730_6734ins3

3 papers

NM_133433.4

p.N2236I

c.6707A>T

1 paper

NM_133433.4

p.K2235_N2236del1

c.6705_6707delAAA

3 papers

NM_133433.4

p.V2233M

c.6697G>A

1 paper

NM_133433.4

p.Q2232*

c.6694C>T

1 paper

NM_133433.4

p.I2231fs

c.6691_6692fs

1 paper

NM_133433.4

p.I2231insFs

c.6691dupA

1 paper

NM_133433.4

p.W2255Splc

c.6763+1G>A

1 paper

NM_133433.4

p.W2255Splc

c.6763+5G>C

5 papers

NM_133433.4

p.W2255Splc

c.6763+5G>T

4 papers

NM_133433.4

p.S2226_V2227delFs

c.6676_6679del4

1 paper

NM_133433.4

p.L2220*

c.6659T>A