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.L614M

c.1840C>A

Surrounding Variants

1 paper

NM_199051.3

p.T613I

c.1838C>T

1 paper

NM_199051.3

p.N616K

c.1848C>G

1 paper

NM_199051.3

p.N616K

c.1848C>A

1 paper

NM_199051.3

p.W610*

c.1830G>A

1 paper

NM_199051.3

p.W610*

c.1829G>A

2 papers

NM_199051.3

p.W618L

c.1853G>T

1 paper

NM_199051.3

p.N609D

c.1825A>G

1 paper

NM_199051.3

p.Y608Y

c.1824T>C

1 paper

NM_199051.3

p.K619T

c.1856A>C

1 paper

NM_199051.3

p.Q606K

c.1816C>A

1 paper

NM_199051.3

p.F622fs

c.1864_1865fs

1 paper

NM_199051.3

p.I627N

c.1880T>A