Varaico: Literature-Extracted Genetic Variants

Gene:RHBDD1
Variant:p.R3Q

RHBDD1

42 papers

Pfam Domains

Rhomboidaa 62–211UCSCRhomboid domain

Gene Aliases

HGNC Name

rhomboid domain containing 1

HGNC Alias Symbols

DKFZp547E052; RHBDL4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001167608.3
p.R3Q
c.8G>A
Surrounding Variants
1 paper
NM_001167608.3
p.G11E
c.32G>A
1 paper
NM_001167608.3
p.L14P
c.41T>C
1 paper
NM_001167608.3
p.L15fs
c.43_44fs
1 paper
NM_001167608.3
p.L15V
c.43C>G
1 paper
NM_001167608.3
p.Q46*
c.136C>T
1 paper
NM_001167608.3
p.Q46R
c.137A>G
1 paper
NM_001167608.3
p.Q46L
c.137A>T
1 paper
NM_001167608.3
p.S52Y
c.155C>A
1 paper
NM_001167608.3
p.D77N
c.229G>A
1 paper
NM_001167608.3
p.D78N
c.232G>A
1 paper
NM_001167608.3
p.S87A
c.259T>G
1 paper
NM_001167608.3
p.G100V
c.299G>T
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