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.S714C

c.2141C>G

Surrounding Variants

1 paper

NM_199051.3

p.N711K

c.2133T>G

1 paper

NM_199051.3

p.N711K

c.2133T>A

1 paper

NM_199051.3

p.Q718K

c.2152C>A

2 papers

NM_199051.3

p.R719C

c.2155C>T

3 papers

NM_199051.3

p.R719H

c.2156G>A

1 paper

NM_199051.3

p.R720S

c.2158C>A

1 paper

NM_199051.3

p.R720L

c.2159G>T

1 paper

NM_199051.3

p.R720H

c.2159G>A

1 paper

NM_199051.3

p.L723fs

c.2167_2168fs

1 paper

NM_199051.3

p.E705K

c.2113G>A

1 paper

NM_199051.3

p.Q702H

c.2106A>T

1 paper

NM_199051.3

p.Q702H

c.2106A>C