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.N1187_C1194del0

c.3561_3581del21

Surrounding Variants

1 paper

NM_018177.6

p.S1201delFs

c.3601_3602delTC

1 paper

NM_018177.6

p.N1200K

c.3600C>A

1 paper

NM_018177.6

p.N1200K

c.3600C>G

1 paper

NM_018177.6

p.S1201fs

c.3601_3602fs

1 paper

NM_018177.6

p.P1211L

c.3632C>T

1 paper

NM_018177.6

p.S1144L

c.3431C>T

1 paper

NM_018177.6

p.Q1142_K1143insFs

c.3426_3427insA

1 paper

NM_018177.6

p.E1137Q

c.3409G>C

1 paper

NM_018177.6

p.T1122delFs

c.3364delA

1 paper

NM_018177.6

p.S1280delFs

c.3838delT

1 paper

NM_018177.6

p.S1280fs

c.3838_3839fs

1 paper

NM_018177.6

p.N1093fs

c.3277_3278fs