Varaico: Literature-Extracted Genetic Variants

Gene:RHBDF2
Variant:p.A220T

RHBDF2

123 papers

Pfam Domains

iRhom1-2_Naa 128–311UCSCInactive rhomboid proteins 1/2, N-terminal
Rhomboidaa 651–790UCSCRhomboid domain

Gene Aliases

HGNC Name

rhomboid 5 homolog 2

HGNC Previous Symbols

RHBDL6; TOC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001005498.4
p.A220T
c.658G>A
Surrounding Variants
1 paper
NM_001005498.4
p.L216_A220del5
c.646_659del15
1 paper
NM_001005498.4
p.Q217_A219delins
c.649_655delinsTGAGGTT
1 paper
NM_001005498.4
p.Q217_A218delFs
c.651_652delCT
1 paper
NM_001005498.4
p.L222F
c.664C>T
1 paper
NM_001005498.4
p.V211V
c.633G>A
1 paper
NM_001005498.4
p.R208delFs
c.622_623delCT
1 paper
NM_001005498.4
p.R208insFs
c.623dupG
2 papers
NM_001005498.4
p.R206H
c.617G>A
1 paper
NM_001005498.4
p.R197S
c.589C>A
1 paper
NM_001005498.4
p.L188_S189delFs
c.564_567del4
4 papers
NM_001005498.4
p.S189F
c.566C>T
1 paper
NM_001005498.4
p.S189Y
c.566C>A
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