Varaico: Literature-Extracted Genetic Variants

NBPF14

67 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 447–511UCSCOlduvai domain

Olduvaiaa 533–597UCSCOlduvai domain

Olduvaiaa 605–672UCSCOlduvai domain

Olduvaiaa 680–747UCSCOlduvai domain

Olduvaiaa 755–822UCSCOlduvai domain

Gene Aliases

HGNC Name

NBPF member 14

HGNC Alias Symbol

DJ328E19.C1.1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 69 variants

3 papers

NM_001395631.1

p.V99F

c.295G>T

3 papers

NM_001395631.1

p.P571S

c.1711C>T

2 papers

NM_001395631.1

p.K12M

c.35A>T

2 papers

NM_001395631.1

p.L92F

c.274C>T

2 papers

NM_001395631.1

p.E529Q

c.1585G>C

2 papers

NM_001395631.1

p.S560S

c.1680C>T

2 papers

NM_001395631.1

p.S569S

c.1707A>G

2 papers

NM_001395631.1

p.E872G

c.2615A>G

2 papers

NM_001395631.1

p.G897C

c.2689G>T

2 papers

NM_001395631.1

p.S1352G

c.4054A>G

2 papers

NM_001395631.1

p.S1521G

c.4561A>G

2 papers

NM_001395631.1

p.K2712I

c.8135A>T