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.E59K

c.175G>A

Surrounding Variants

1 paper

NM_199051.3

p.E59E

c.177A>G

1 paper

NM_199051.3

p.S57*

c.170C>G

1 paper

NM_199051.3

p.S57*

c.170C>A

1 paper

NM_199051.3

p.D62V

c.185A>T

1 paper

NM_199051.3

p.H55R

c.164A>G

1 paper

NM_199051.3

p.P53P

c.159C>A

1 paper

NM_199051.3

p.S67R

c.199A>C

1 paper

NM_199051.3

p.S67R

c.201C>G

1 paper

NM_199051.3

p.S67R

c.201C>A

1 paper

NM_199051.3

p.R68Q

c.203G>A

1 paper

NM_199051.3

p.S49C

c.146C>G

1 paper

NM_199051.3

p.Q69*

c.205C>T