Varaico: Literature-Extracted Genetic Variants

NBPF9

71 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 176–240UCSCOlduvai domain

Olduvaiaa 448–511UCSCOlduvai domain

Olduvaiaa 533–597UCSCOlduvai domain

Olduvaiaa 605–672UCSCOlduvai domain

Olduvaiaa 680–747UCSCOlduvai domain

Olduvaiaa 755–822UCSCOlduvai domain

Gene Aliases

HGNC Name

NBPF member 9

HGNC Alias Symbol

AE01

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001388367.1

p.L315V

c.943C>G

Surrounding Variants

3 papers

NM_001388367.1

p.K312R

c.935A>G

1 paper

NM_001388367.1

p.N327K

c.981C>G

1 paper

NM_001388367.1

p.N327K

c.981C>A

3 papers

NM_001388367.1

p.R296H

c.887G>A

1 paper

NM_001388367.1

p.I291M

c.873C>G

1 paper

NM_001388367.1

p.M286T

c.857T>C

1 paper

NM_001388367.1

p.A284A

c.852A>C

1 paper

NM_001388367.1

p.E282K

c.844G>A

3 papers

NM_001388367.1

p.L279W

c.836T>G

1 paper

NM_001388367.1

p.Q252R

c.755A>G

1 paper

NM_001388367.1

p.D202Y

c.604G>T

1 paper

NM_001388367.1

p.E196A

c.587A>C