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.E421V

c.1262A>T

Surrounding Variants

1 paper

NM_199051.3

p.E421K

c.1261G>A

2 papers

NM_199051.3

p.S420L

c.1259C>T

1 paper

NM_199051.3

p.T423M

c.1268C>T

1 paper

NM_199051.3

p.S418R

c.1254C>G

1 paper

NM_199051.3

p.S418R

c.1254C>A

1 paper

NM_199051.3

p.S418R

c.1252A>C

1 paper

NM_199051.3

p.G414D

c.1241G>A

1 paper

NM_199051.3

p.E412K

c.1234G>A

1 paper

NM_199051.3

p.D431V

c.1292A>T

2 papers

NM_199051.3

p.Q432K

c.1294C>A

1 paper

NM_199051.3

p.A437S

c.1309G>T

3 papers

NM_199051.3

p.A437T

c.1309G>A