Varaico: Literature-Extracted Genetic Variants

Gene:RHBDD3
Variant:p.L87R

RHBDD3

38 papers

Pfam Domains

Rhomboidaa 47–185UCSCRhomboid domain
UBAaa 324–359UCSCUBA/TS-N domain

Gene Aliases

HGNC Name

rhomboid domain containing 3

HGNC Alias Symbol

PTAG

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_012265.3
p.L87R
c.260T>G
Surrounding Variants
1 paper
NM_012265.3
p.T86M
c.257C>T
2 papers
NM_012265.3
p.L102L
c.304C>T
1 paper
NM_012265.3
p.A108S
c.322G>T
1 paper
NM_012265.3
p.H56Y
c.166C>T
1 paper
NM_012265.3
p.L53_L54insFs
c.159_160ins4
1 paper
NM_012265.3
p.V50Splc
c.149-9C>T
1 paper
NM_012265.3
p.E132E
c.396G>A
1 paper
NM_012265.3
p.H134Y
c.400C>T
1 paper
NM_012265.3
p.S148_L151ins1
c.442_453dup12
1 paper
NM_012265.3
p.P157T
c.469C>A
1 paper
NM_012265.3
p.L159_S160ins4
c.475_479ins12
1 paper
NM_012265.3
p.G171fs
c.511_512fs
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