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.E509E

c.1527G>A

Surrounding Variants

1 paper

NM_014618.3

p.E509*

c.1525G>T

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

1 paper

NM_014618.3

p.W520C

c.1560G>T

1 paper

NM_014618.3

p.W520C

c.1560G>C

1 paper

NM_014618.3

p.R521C

c.1561C>T

1 paper

NM_014618.3

p.R521H

c.1562G>A

1 paper

NM_014618.3

p.K522_M524del0

c.1565_1570del6

1 paper

NM_014618.3

p.L526I

c.1576C>A

1 paper

NM_014618.3

p.R534C

c.1600C>T