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.P471S

c.1411C>T

Surrounding Variants

1 paper

NM_001243351.2

p.A508_A511del0

c.1522_1533del12

1 paper

NM_001243351.2

p.A508T

c.1522G>A

1 paper

NM_001243351.2

p.I597S

c.1790T>G

1 paper

NM_001243351.2

p.S445A

c.1333T>G

1 paper

NM_001243351.2

p.A310P

c.928G>C

1 paper

NM_001243351.2

p.A310S

c.928G>T

1 paper

NM_001243351.2

p.Q296P

c.887A>C

1 paper

NM_001243351.2

p.N279S

c.836A>G

1 paper

NM_001243351.2

p.D278A

c.833A>C