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

2 papers

NM_199051.3

p.V91A

c.272T>C

Surrounding Variants

1 paper

NM_199051.3

p.R93G

c.277A>G

1 paper

NM_199051.3

p.R83C

c.247C>T

1 paper

NM_199051.3

p.R83fs

c.247_248fs

1 paper

NM_199051.3

p.P100P

c.300T>A

1 paper

NM_199051.3

p.L101L

c.301C>T

1 paper

NM_199051.3

p.P105S

c.313C>T

2 papers

NM_199051.3

p.R109C

c.325C>T

2 papers

NM_199051.3

p.R109H

c.326G>A

1 paper

NM_199051.3

p.R116C

c.346C>T

1 paper

NM_199051.3

p.R116H

c.347G>A

1 paper

NM_199051.3

p.T119S

c.355A>T

1 paper

NM_199051.3

p.T119S

c.356C>G