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.R656Q

c.1967G>A

Surrounding Variants

1 paper

NM_199051.3

p.P654_R656delFs

c.1962_1968del7

1 paper

NM_199051.3

p.P654_R656del3

c.1960_1967del9

2 papers

NM_199051.3

p.P654L

c.1961C>T

1 paper

NM_199051.3

p.Y660S

c.1979A>C

1 paper

NM_199051.3

p.E650fs

c.1948_1949fs

1 paper

NM_199051.3

p.E650K

c.1948G>A

1 paper

NM_199051.3

p.E647G

c.1940A>G

1 paper

NM_199051.3

p.Y645S

c.1934A>C

1 paper

NM_199051.3

p.V668G

c.2003T>G

1 paper

NM_199051.3

p.S643R

c.1929C>G

1 paper

NM_199051.3

p.S643R

c.1929C>A

1 paper

NM_199051.3

p.S643R

c.1927A>C