Varaico: Literature-Extracted Genetic Variants

Gene:BRINP2
Variant:p.Q314H

BRINP2

105 papers

Pfam Domains

MACPFaa 63–195UCSCMAC/Perforin domain
EGF_BRNP1-3aa 276–310UCSCBRNP1-3, EGF domain
BRINP_Caa 336–783UCSCBRINP C-terminal domain

Gene Aliases

HGNC Name

BMP/retinoic acid inducible neural specific 2

HGNC Previous Symbol

FAM5B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021165.4
p.Q314H
c.942G>C
Surrounding Variants
1 paper
NM_021165.4
p.Q314H
c.942G>T
1 paper
NM_021165.4
p.Q322H
c.966G>C
1 paper
NM_021165.4
p.Q322H
c.966G>T
1 paper
NM_021165.4
p.D325E
c.975C>A
1 paper
NM_021165.4
p.C297F
c.890G>T
1 paper
NM_021165.4
p.C295F
c.884G>T
2 papers
NM_021165.4
p.E336K
c.1006G>A
1 paper
NM_021165.4
p.S283S
c.849C>T
1 paper
NM_021165.4
p.R271H
c.812G>A
1 paper
NM_021165.4
p.R271C
c.811C>T
1 paper
NM_021165.4
p.R269H
c.806G>A
1 paper
NM_021165.4
p.K345*
c.1033A>T
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