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.E566Q

c.1696G>C

Surrounding Variants

1 paper

NM_199051.3

p.L565F

c.1695G>T

1 paper

NM_199051.3

p.L565F

c.1695G>C

1 paper

NM_199051.3

p.L569F

c.1707G>T

1 paper

NM_199051.3

p.L569F

c.1707G>C

1 paper

NM_199051.3

p.N562D

c.1684A>G

2 papers

NM_199051.3

p.G577R

c.1729G>C

2 papers

NM_199051.3

p.G577R

c.1729G>A

1 paper

NM_199051.3

p.G578R

c.1732G>C

1 paper

NM_199051.3

p.G552V

c.1655G>T

1 paper

NM_199051.3

p.M549K

c.1646T>A

1 paper

NM_199051.3

p.E582D

c.1746G>T

1 paper

NM_199051.3

p.E582D

c.1746G>C