Varaico: Literature-Extracted Genetic Variants

Gene:BRINP3
Variant:p.I684V

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
MACPFaa 52–200UCSCMAC/Perforin domain
EGF_BRNP1-3aa 259–293UCSCBRNP1-3, EGF 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.I684V
c.2050A>G
Surrounding Variants
1 paper
NM_199051.3
p.D682N
c.2044G>A
1 paper
NM_199051.3
p.L687V
c.2059C>G
1 paper
NM_199051.3
p.P690T
c.2068C>A
1 paper
NM_199051.3
p.S672N
c.2015G>A
2 papers
NM_199051.3
p.G670D
c.2009G>A
1 paper
NM_199051.3
p.V668G
c.2003T>G
1 paper
NM_199051.3
p.L701F
c.2103G>T
1 paper
NM_199051.3
p.L701F
c.2103G>C
1 paper
NM_199051.3
p.Q702H
c.2106A>T
1 paper
NM_199051.3
p.Q702H
c.2106A>C
1 paper
NM_199051.3
p.E705K
c.2113G>A
1 paper
NM_199051.3
p.Y660S
c.1979A>C
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