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.C452C

c.1356C>T

Surrounding Variants

1 paper

NM_199051.3

p.L450P

c.1349T>C

1 paper

NM_199051.3

p.C449*

c.1347C>A

1 paper

NM_199051.3

p.N456D

c.1366A>G

1 paper

NM_199051.3

p.R457L

c.1370G>T

1 paper

NM_199051.3

p.G444E

c.1331G>A

3 papers

NM_199051.3

p.V443M

c.1327G>A

1 paper

NM_199051.3

p.G466S

c.1396G>A

1 paper

NM_199051.3

p.A437S

c.1309G>T

3 papers

NM_199051.3

p.A437T

c.1309G>A

1 paper

NM_199051.3

p.L469H

c.1406T>A

1 paper

NM_199051.3

p.Q471K

c.1411C>A

1 paper

NM_199051.3

p.L473H

c.1418T>A