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.S690L

c.2069C>T

Surrounding Variants

1 paper

NM_014618.3

p.S691S

c.2073A>G

1 paper

NM_014618.3

p.S688P

c.2062T>C

1 paper

NM_014618.3

p.L695F

c.2083C>T

1 paper

NM_014618.3

p.G683A

c.2048G>C

1 paper

NM_014618.3

p.Q682K

c.2044C>A

1 paper

NM_014618.3

p.T681_Q682insT

c.2041_2045ins3

1 paper

NM_014618.3

p.R700W

c.2098C>T

1 paper

NM_014618.3

p.R700Q

c.2099G>A

1 paper

NM_014618.3

p.N704I

c.2111A>T

1 paper

NM_014618.3

p.R705H

c.2114G>A

1 paper

NM_014618.3

p.V710L

c.2128G>T

1 paper

NM_014618.3

p.V710L

c.2128G>C