Varaico: Literature-Extracted Genetic Variants

N4BP2

108 papers

RefSeq Summary

This gene encodes a protein containing a polynucleotide kinase domain (PNK) near the N-terminal region, and a Small MutS Related (Smr) domain near the C-terminal region. The encoded protein can bind t...

Pfam Domains

AAA_33aa 442–576UCSCAAA domain

DUF7817aa 1012–1055UCSCDomain of unknown function (DUF7817)

UBA_N4BP2aa 1086–1125UCSCNEDD4-binding protein 2, UBA domain

DUF7818aa 1370–1413UCSCDomain of unknown function (DUF7818)

DUF7816aa 1510–1580UCSCDomain of unknown function (DUF7816)

DUF1771aa 1619–1682UCSCDomain of unknown function (DUF1771)

Gene Aliases

HGNC Name

NEDD4 binding protein 2

HGNC Alias Symbol

B3BP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018177.6

p.T978S

c.2932A>T

Surrounding Variants

1 paper

NM_018177.6

p.T978S

c.2933C>G

1 paper

NM_018177.6

p.Q961R

c.2882A>G

2 papers

NM_018177.6

p.A996V

c.2987C>T

1 paper

NM_018177.6

p.Q1001*

c.3001C>T

1 paper

NM_018177.6

p.D1006G

c.3017A>G

1 paper

NM_018177.6

p.S949C

c.2846C>G

1 paper

NM_018177.6

p.E1010fs

c.3028_3029fs

1 paper

NM_018177.6

p.E1010*

c.3028G>T

1 paper

NM_018177.6

p.T1017_E1018insFs

c.3051_3052insA

1 paper

NM_018177.6

p.P908S

c.2722C>T

1 paper

NM_018177.6

p.G1048E

c.3143G>A

1 paper

NM_018177.6

p.V1062_P1067insFs

c.3185_3201dup17