Varaico: Literature-Extracted Genetic Variants

NBPF12

77 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 718–782UCSCOlduvai domain

Olduvaiaa 804–868UCSCOlduvai domain

Olduvaiaa 876–943UCSCOlduvai domain

Olduvaiaa 951–1018UCSCOlduvai domain

Gene Aliases

HGNC Name

NBPF member 12

HGNC Previous Symbol

KIAA1245

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_001278141.3

p.L1164R

c.3491T>G

Surrounding Variants

1 paper

NM_001278141.3

p.D1166N

c.3496G>A

1 paper

NM_001278141.3

p.P1167S

c.3499C>T

1 paper

NM_001278141.3

p.Y1171H

c.3511T>C

5 papers

NM_001278141.3

p.Y1171C

c.3512A>G

1 paper

NM_001278141.3

p.S1156L

c.3467C>T

1 paper

NM_001278141.3

p.W1154C

c.3462G>C

1 paper

NM_001278141.3

p.W1154C

c.3462G>T

1 paper

NM_001278141.3

p.Y1176Y

c.3528C>T

1 paper

NM_001278141.3

p.E1143G

c.3428A>G

1 paper

NM_001278141.3

p.L1185F

c.3555G>C

1 paper

NM_001278141.3

p.L1185F

c.3555G>T

4 papers

NM_001278141.3

p.A1186P

c.3556G>C