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.M757I

c.2271G>A

Surrounding Variants

1 paper

NM_199051.3

p.M757I

c.2271G>T

1 paper

NM_199051.3

p.M757I

c.2271G>C

1 paper

NM_199051.3

p.D758Y

c.2272G>T

1 paper

NM_199051.3

p.D758H

c.2272G>C

1 paper

NM_199051.3

p.M757V

c.2269A>G

1 paper

NM_199051.3

p.Y759*

c.2277T>G

1 paper

NM_199051.3

p.Y759*

c.2277T>A

1 paper

NM_199051.3

p.T762I

c.2285C>T

1 paper

NM_199051.3

p.R741S

c.2223G>T

1 paper

NM_199051.3

p.R741S

c.2223G>C

1 paper

NM_199051.3

p.S735C

c.2204C>G

1 paper

NM_199051.3

p.L732H

c.2195T>A