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.R193W

c.577C>T

Surrounding Variants

1 paper

NM_199051.3

p.R193P

c.578G>C

1 paper

NM_199051.3

p.T191S

c.572C>G

1 paper

NM_199051.3

p.L195R

c.584T>G

1 paper

NM_199051.3

p.I198M

c.594T>G

1 paper

NM_199051.3

p.D187N

c.559G>A

1 paper

NM_199051.3

p.I205L

c.613A>T

1 paper

NM_199051.3

p.I205L

c.613A>C

1 paper

NM_199051.3

p.T176M

c.527C>T

1 paper

NM_199051.3

p.S171L

c.512C>T

1 paper

NM_199051.3

p.S170Y

c.509C>A

1 paper

NM_199051.3

p.N168S

c.503A>G

2 papers

NM_199051.3

p.N168D

c.502A>G