Varaico: Literature-Extracted Genetic Variants

NUB1

75 papers

RefSeq Summary

This gene encodes a protein that functions as a negative regulator of NEDD8, a ubiquitin-like protein that conjugates with cullin family members in order to regulate vital biological events. The prote...

Pfam Domains

SASH1_Homeodomainaa 7–73UCSCSASH1 homeodomain-like domain

Ubiquitin_5aa 82–158UCSCNUB1 Ubiquitin-like domain

UBAaa 375–411UCSCUBA/TS-N domain

UBAaa 399–435UCSCUBA/TS-N domain

UBAaa 490–526UCSCUBA/TS-N domain

UBAaa 500–536UCSCUBA/TS-N domain

Gene Aliases

HGNC Name

negative regulator of ubiquitin like proteins 1

HGNC Alias Symbols

BS4; NYREN18; NUB1L

Papers

RefSeq ID

Protein change

DNA change

1–12 of 40 variants

2 papers

NM_001243351.2

p.K4N

c.12G>C

2 papers

NM_001243351.2

p.A197P

c.589G>C

1 paper

NM_001243351.2

p.M1I

c.3G>A

1 paper

NM_001243351.2

p.K4N

c.12G>T

1 paper

NM_001243351.2

p.Q8R

c.23A>G

1 paper

NM_001243351.2

p.T12delFs

c.35delC

1 paper

NM_001243351.2

p.F14Y

c.41T>A

1 paper

NM_001243351.2

p.D18V

c.53A>T

1 paper

NM_001243351.2

p.P26A

c.76C>G

1 paper

NM_001243351.2

p.V34A

c.101T>C

1 paper

NM_001243351.2

p.K39_D40Splc

c.118-2A>G

1 paper

NM_001243351.2

p.S46A

c.136T>G