Varaico: Literature-Extracted Genetic Variants

NBN

1,843 papers

RefSeq Summary

Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and ...

Pfam Domains

FHAaa 24–100UCSCFHA domain

BRCTaa 108–181UCSCBRCA1 C Terminus (BRCT) domain

NIBRIN_BRCT_IIaa 216–325UCSCSecond BRCT domain on Nijmegen syndrome breakage protein

Nbs1_Caa 683–746UCSCDNA damage repair protein Nbs1

Gene Aliases

HGNC Name

nibrin

HGNC Previous Symbols

NBS; NBS1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_002485.5

p.R169H

c.506G>A

Surrounding Variants

1 paper

NM_002485.5

p.R169R

c.507T>A

16 papers

NM_002485.5

p.R169C

c.505C>T

1 paper

NM_002485.5

p.P170L

c.509C>T

1 paper

NM_002485.5

p.T161_C167del7

c.481_500del21

1 paper

NM_002485.5

p.P170P

c.510A>T

2 papers

NM_002485.5

p.C167fs

c.499_500fs

157 papers

NM_002485.5

p.I171V

c.511A>G

NM_001024688.3

p.I89V

c.265A>G

1 paper

NM_002485.5

p.P170_I171delins

c.510_511delinsTT

1 paper

NM_002485.5

p.C167F

c.500G>T

1 paper

NM_002485.5

p.C167insFs

c.499_500insT

1 paper

NM_002485.5

p.C167R

c.499T>C

1 paper

NM_002485.5

p.I166fs

c.496_497fs