Varaico: Literature-Extracted Genetic Variants

Gene:RHBDF2
Variant:p.I576V

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_024599.5
p.I576V
c.1726A>G
Surrounding Variants
1 paper
NM_001005498.4
p.C564_K567del4
c.1690_1700del12
1 paper
NM_001005498.4
p.P546S
c.1636C>T
1 paper
NM_001005498.4
p.W545S
c.1634G>C
2 papers
NM_001005498.4
p.D540N
c.1618G>A
1 paper
NM_001005498.4
p.W538S
c.1613G>C
3 papers
NM_001005498.4
p.E528*
c.1582G>T
1 paper
NM_001005498.4
p.R525G
c.1573A>G
1 paper
NM_001005498.4
p.S516L
c.1547C>T
1 paper
NM_001005498.4
p.P504L
c.1511C>T
1 paper
NM_001005498.4
p.D499Y
c.1495G>T
1 paper
NM_001005498.4
p.E489D
c.1467G>T
1 paper
NM_001005498.4
p.E489D
c.1467G>C
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