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

2 papers

NM_018177.6

p.E118K

c.352G>A

Surrounding Variants

1 paper

NM_018177.6

p.E126K

c.376G>A

1 paper

NM_018177.6

p.S128insFs

c.384dupA

1 paper

NM_018177.6

p.M130fs

c.388_389fs

1 paper

NM_018177.6

p.A104G

c.311C>G

1 paper

NM_018177.6

p.S132P

c.394T>C

1 paper

NM_018177.6

p.V103I

c.307G>A

3 papers

NM_018177.6

p.S101I

c.302G>T

1 paper

NM_018177.6

p.Q137*

c.409C>T

1 paper

NM_018177.6

p.T139T

c.417T>A

1 paper

NM_018177.6

p.T92I

c.275C>T

1 paper

NM_018177.6

p.Q147*

c.439C>T

1 paper

NM_018177.6

p.S184*

c.551C>A