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

Selected Variant

1 paper

NM_001243351.2

p.V155V

c.465G>T

Surrounding Variants

1 paper

NM_001243351.2

p.K159R

c.476A>G

1 paper

NM_001243351.2

p.S161A

c.481T>G

1 paper

NM_001243351.2

p.A165V

c.494C>T

2 papers

NM_001243351.2

p.A197P

c.589G>C

1 paper

NM_001243351.2

p.N217Y

c.649A>T

1 paper

NM_001243351.2

p.K134R

c.401A>G

1 paper

NM_001243351.2

p.M237I

c.711G>A

1 paper

NM_001243351.2

p.M237I

c.711G>C

1 paper

NM_001243351.2

p.M237I

c.711G>T

1 paper

NM_001243351.2

p.E102A

c.305A>C

1 paper

NM_001243351.2

p.R249S

c.747A>C

1 paper

NM_001243351.2

p.R249S

c.747A>T