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.D639E

c.1917C>G

Surrounding Variants

1 paper

NM_014618.3

p.D639E

c.1917C>A

1 paper

NM_014618.3

p.L640M

c.1918C>A

1 paper

NM_014618.3

p.S641L

c.1922C>T

1 paper

NM_014618.3

p.P637P

c.1911C>T

1 paper

NM_014618.3

p.P643L

c.1928C>T

1 paper

NM_014618.3

p.K645N

c.1935G>T

1 paper

NM_014618.3

p.K645N

c.1935G>C

2 papers

NM_014618.3

p.R630Q

c.1889G>A

1 paper

NM_014618.3

p.R630*

c.1888C>T

1 paper

NM_014618.3

p.V655M

c.1963G>A

2 papers

NM_014618.3

p.R622Q

c.1865G>A

1 paper

NM_014618.3

p.A666T

c.1996G>A