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.I1397T

c.4190T>C

Surrounding Variants

1 paper

NM_018177.6

p.F1392insFs

c.4175_4176insCA

1 paper

NM_018177.6

p.N1389D

c.4165A>G

1 paper

NM_018177.6

p.T1372_A1379delFs

c.4116_4135del20

1 paper

NM_018177.6

p.T1372fs

c.4114_4115fs

1 paper

NM_018177.6

p.E1359K

c.4075G>A

1 paper

NM_018177.6

p.E1355D

c.4065A>C

1 paper

NM_018177.6

p.E1355D

c.4065A>T

1 paper

NM_018177.6

p.S1353R

c.4059T>A

1 paper

NM_018177.6

p.S1353R

c.4059T>G

1 paper

NM_018177.6

p.S1353R

c.4057A>C

1 paper

NM_018177.6

p.K1319N

c.3957G>C

1 paper

NM_018177.6

p.K1319N

c.3957G>T