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.A479V

c.1436C>T

Surrounding Variants

1 paper

NM_199051.3

p.A479T

c.1435G>A

1 paper

NM_199051.3

p.L473H

c.1418T>A

1 paper

NM_199051.3

p.I486I

c.1458T>A

1 paper

NM_199051.3

p.Q471K

c.1411C>A

1 paper

NM_199051.3

p.F488C

c.1463T>G

1 paper

NM_199051.3

p.L469H

c.1406T>A

1 paper

NM_199051.3

p.G466S

c.1396G>A

1 paper

NM_199051.3

p.D494H

c.1480G>C

1 paper

NM_199051.3

p.D494G

c.1481A>G

1 paper

NM_199051.3

p.E496K

c.1486G>A

1 paper

NM_199051.3

p.M497I

c.1491G>T

1 paper

NM_199051.3

p.M497I

c.1491G>C