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

2 papers

NM_014618.3

p.R586C

c.1756C>T

Surrounding Variants

1 paper

NM_014618.3

p.W587R

c.1759T>C

1 paper

NM_014618.3

p.L592I

c.1774C>A

1 paper

NM_014618.3

p.L592H

c.1775T>A

1 paper

NM_014618.3

p.N576S

c.1727A>G

1 paper

NM_014618.3

p.E573E

c.1719G>A

4 papers

NM_014618.3

p.R607W

c.1819C>T

1 paper

NM_014618.3

p.R607Q

c.1820G>A

2 papers

NM_014618.3

p.R622Q

c.1865G>A

1 paper

NM_014618.3

p.S545F

c.1634C>T

1 paper

NM_014618.3

p.R630*

c.1888C>T

2 papers

NM_014618.3

p.R630Q

c.1889G>A

1 paper

NM_014618.3

p.F537V

c.1609T>G