Varaico: Literature-Extracted Genetic Variants

BRINP1

111 papers

RefSeq Summary

This gene is located within a chromosomal region that shows loss of heterozygosity in some bladder cancers. It contains a 5' CpG island that may be a frequent target of hypermethylation, and it may u...

Pfam Domains

MACPFaa 46–198UCSCMAC/Perforin domain

EGF_BRNP1-3aa 246–280UCSCBRNP1-3, EGF domain

BRINP_Caa 306–761UCSCBRINP C-terminal domain

Gene Aliases

HGNC Name

BMP/retinoic acid inducible neural specific 1

HGNC Previous Symbols

DBCCR1; DBC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014618.3

p.V216L

c.646G>C

Surrounding Variants

1 paper

NM_014618.3

p.S220_S223delFs

c.659_668del10

1 paper

NM_014618.3

p.S206S

c.618C>T

1 paper

NM_014618.3

p.L227_Q228insFs

c.681_682insT

1 paper

NM_014618.3

p.P201T

c.601C>A

1 paper

NM_014618.3

p.K193_V194Splc

c.579+2T>A

1 paper

NM_014618.3

p.R180R

c.540G>A

1 paper

NM_014618.3

p.S170P

c.508T>C

3 papers

NM_014618.3

p.K153N

c.459G>T

3 papers

NM_014618.3

p.K153N

c.459G>C

2 papers

NM_014618.3

p.R149H

c.446G>A

1 paper

NM_014618.3

p.D146V

c.437A>T