Varaico: Literature-Extracted Genetic Variants

BRINP3

171 papers

RefSeq Summary

This gene is overexpressed in pituitary tumors but is underexpressed in tongue squamous cell carcinomas, ulcerative colitis, and peri-implantitis. Polymorphisms that increase expression of this gene h...

Pfam Domains

MACPFaa 52–200UCSCMAC/Perforin domain

EGF_BRNP1-3aa 259–293UCSCBRNP1-3, EGF domain

BRINP_Caa 319–766UCSCBRINP C-terminal domain

Gene Aliases

HGNC Name

BMP/retinoic acid inducible neural specific 3

HGNC Previous Symbol

FAM5C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_199051.3

p.G640D

c.1919G>A

Surrounding Variants

1 paper

NM_199051.3

p.N641D

c.1921A>G

1 paper

NM_199051.3

p.N641K

c.1923T>G

1 paper

NM_199051.3

p.N641K

c.1923T>A

1 paper

NM_199051.3

p.E642*

c.1924G>T

1 paper

NM_199051.3

p.S643R

c.1927A>C

1 paper

NM_199051.3

p.S643R

c.1929C>G

1 paper

NM_199051.3

p.S643R

c.1929C>A

1 paper

NM_199051.3

p.S635F

c.1904C>T

1 paper

NM_199051.3

p.Y645S

c.1934A>C

1 paper

NM_199051.3

p.I633T

c.1898T>C

1 paper

NM_199051.3

p.E647G

c.1940A>G

1 paper

NM_199051.3

p.R632H

c.1895G>A