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.P712T

c.2134C>A

Surrounding Variants

1 paper

NM_014618.3

p.G713R

c.2137G>C

1 paper

NM_014618.3

p.G713R

c.2137G>A

1 paper

NM_014618.3

p.G713E

c.2138G>A

1 paper

NM_014618.3

p.V710L

c.2128G>T

1 paper

NM_014618.3

p.V710L

c.2128G>C

1 paper

NM_014618.3

p.R705H

c.2114G>A

1 paper

NM_014618.3

p.N704I

c.2111A>T

1 paper

NM_014618.3

p.R700Q

c.2099G>A

1 paper

NM_014618.3

p.R700W

c.2098C>T

1 paper

NM_014618.3

p.R727H

c.2180G>A

1 paper

NM_014618.3

p.L695F

c.2083C>T

1 paper

NM_014618.3

p.S691S

c.2073A>G