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.S42R

c.124A>C

Surrounding Variants

1 paper

NM_199051.3

p.S42T

c.125G>C

1 paper

NM_199051.3

p.S42R

c.126C>G

1 paper

NM_199051.3

p.S42R

c.126C>A

1 paper

NM_001317188.2

p.P5H

c.14C>A

1 paper

NM_199051.3

p.A40S

c.118G>T

1 paper

NM_199051.3

p.D45N

c.133G>A

1 paper

NM_199051.3

p.D45E

c.135C>G

1 paper

NM_199051.3

p.D45E

c.135C>A

1 paper

NM_199051.3

p.S36L

c.107C>T

1 paper

NM_199051.3

p.S49C

c.146C>G

1 paper

NM_199051.3

p.P53P

c.159C>A

1 paper

NM_199051.3

p.H55R

c.164A>G