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.F477L

c.1431T>G

Surrounding Variants

1 paper

NM_014618.3

p.F477L

c.1431T>A

1 paper

NM_014618.3

p.F477L

c.1429T>C

1 paper

NM_014618.3

p.F483del1

c.1447_1449delGAA

1 paper

NM_014618.3

p.D467Y

c.1399G>T

1 paper

NM_014618.3

p.V466M

c.1396G>A

1 paper

NM_014618.3

p.P463Q

c.1388C>A

1 paper

NM_014618.3

p.E509*

c.1525G>T

1 paper

NM_014618.3

p.E509E

c.1527G>A

2 papers

NM_014618.3

p.R511H

c.1532G>A

1 paper

NM_014618.3

p.F515L

c.1543T>C

1 paper

NM_014618.3

p.F515L

c.1545C>G

1 paper

NM_014618.3

p.F515L

c.1545C>A