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.D89Y

c.265G>T

Surrounding Variants

1 paper

NM_014618.3

p.L90L

c.268C>T

2 papers

NM_014618.3

p.V91I

c.271G>A

1 paper

NM_014618.3

p.V91fs

c.271_272fs

1 paper

NM_014618.3

p.R92C

c.274C>T

1 paper

NM_014618.3

p.L97I

c.289C>A

1 paper

NM_014618.3

p.R77C

c.229C>T

1 paper

NM_014618.3

p.R106C

c.316C>T

1 paper

NM_014618.3

p.P112T

c.334C>A

1 paper

NM_014618.3

p.K124N

c.372G>C

1 paper

NM_014618.3

p.Y125*

c.375C>G

1 paper

NM_014618.3

p.Y125*

c.375C>A

1 paper

NM_014618.3

p.L135W

c.404T>G