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.N1650fs

c.4948_4949fs

Surrounding Variants

1 paper

NM_018177.6

p.K1648fs

c.4942_4943fs

1 paper

NM_018177.6

p.A1652T

c.4954G>A

3 papers

NM_018177.6

p.K1648delFs

c.4942delA

1 paper

NM_018177.6

p.R1645Q

c.4934G>A

1 paper

NM_018177.6

p.M1634V

c.4900A>G

1 paper

NM_018177.6

p.A1624_E1625ins7

c.4870_4874ins21

1 paper

NM_018177.6

p.Y1622C

c.4865A>G

1 paper

NM_018177.6

p.K1597fs

c.4789_4790fs

1 paper

NM_018177.6

p.N1670T

c.5009A>C

1 paper

NM_018177.6

p.N1670S

c.5009A>G

1 paper

NM_018177.6

p.P1687S

c.5059C>T

1 paper

NM_018177.6

p.E1700K

c.5098G>A