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.K498N

c.1494A>T

Surrounding Variants

1 paper

NM_199051.3

p.K498N

c.1494A>C

3 papers

NM_199051.3

p.Y499H

c.1495T>C

1 paper

NM_199051.3

p.M497I

c.1491G>T

1 paper

NM_199051.3

p.M497I

c.1491G>C

1 paper

NM_199051.3

p.M497I

c.1491G>A

1 paper

NM_199051.3

p.E496K

c.1486G>A

1 paper

NM_199051.3

p.D494G

c.1481A>G

1 paper

NM_199051.3

p.D494H

c.1480G>C

1 paper

NM_199051.3

p.T504M

c.1511C>T

3 papers

NM_199051.3

p.R507*

c.1519C>T

1 paper

NM_199051.3

p.F488C

c.1463T>G

1 paper

NM_199051.3

p.V510F

c.1528G>T