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

1–12 of 276 variants

3 papers

NM_199051.3

p.S24N

c.71G>A

3 papers

NM_199051.3

p.P287S

c.859C>T

3 papers

NM_199051.3

p.A437T

c.1309G>A

3 papers

NM_199051.3

p.V443M

c.1327G>A

3 papers

NM_199051.3

p.Y499H

c.1495T>C

3 papers

NM_199051.3

p.R507*

c.1519C>T

3 papers

NM_199051.3

p.R719H

c.2156G>A

2 papers

NM_199051.3

p.V91A

c.272T>C

2 papers

NM_199051.3

p.R109C

c.325C>T

2 papers

NM_199051.3

p.R109H

c.326G>A

2 papers

NM_199051.3

p.N168D

c.502A>G

2 papers

NM_199051.3

p.L246fs

c.736_737fs