Varaico: Literature-Extracted Genetic Variants

NBPF3

106 papers

RefSeq Summary

This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene f...

Pfam Domains

Olduvaiaa 232–296UCSCOlduvai domain

Olduvaiaa 318–382UCSCOlduvai domain

Olduvaiaa 390–457UCSCOlduvai domain

Olduvaiaa 465–532UCSCOlduvai domain

Gene Aliases

HGNC Name

NBPF member 3

HGNC Alias Symbol

AE2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032264.6

p.L162P

c.485T>C

Surrounding Variants

1 paper

NM_032264.6

p.L162L

c.486G>C

1 paper

NM_032264.6

p.E171G

c.512A>G

1 paper

NM_032264.6

p.Y151H

c.451T>C

1 paper

NM_032264.6

p.Q150H

c.450A>C

1 paper

NM_032264.6

p.R177C

c.529C>T

2 papers

NM_032264.6

p.N180S

c.539A>G

1 paper

NM_032264.6

p.Q181E

c.541C>G

1 paper

NM_032264.6

p.D190H

c.568G>C

1 paper

NM_032264.6

p.R201*

c.601C>T

1 paper

NM_032264.6

p.E202Q

c.604G>C

1 paper

NM_032264.6

p.E202A

c.605A>C

1 paper

NM_032264.6

p.E202D

c.606A>C