Varaico: Literature-Extracted Genetic Variants

Gene:RHBDF2
Variant:p.S477F

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.S477F
c.1430C>T
Surrounding Variants
1 paper
NM_001005498.4
p.Q483_R484insC
c.1447_1451ins3
1 paper
NM_001005498.4
p.R466Q
c.1397G>A
1 paper
NM_001005498.4
p.R466W
c.1396C>T
1 paper
NM_001005498.4
p.E465*
c.1393G>T
1 paper
NM_001005498.4
p.I454M
c.1362C>G
1 paper
NM_001005498.4
p.G441V
c.1322G>T
1 paper
NM_001005498.4
p.E489D
c.1467G>T
1 paper
NM_001005498.4
p.E489D
c.1467G>C
1 paper
NM_001005498.4
p.D499Y
c.1495G>T
1 paper
NM_001005498.4
p.P504L
c.1511C>T
1 paper
NM_001005498.4
p.N427N
c.1281C>T
1 paper
NM_001005498.4
p.S516L
c.1547C>T
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