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

1–12 of 129 variants

4 papers

NM_014618.3

p.R607W

c.1819C>T

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.V91I

c.271G>A

2 papers

NM_014618.3

p.R149H

c.446G>A

2 papers

NM_014618.3

p.R411Q

c.1232G>A

2 papers

NM_014618.3

p.R511H

c.1532G>A

2 papers

NM_014618.3

p.R586C

c.1756C>T

2 papers

NM_014618.3

p.R622Q

c.1865G>A

2 papers

NM_014618.3

p.R630Q

c.1889G>A

2 papers

NM_014618.3

p.S690L

c.2069C>T

2 papers

NM_014618.3

p.P712T

c.2134C>A