Varaico: Literature-Extracted Genetic Variants

Gene:MROH1
Variant:p.D521N

MROH1

44 papers

Pfam Domains

HEAT_MROH2B_1staa 32–251UCSCMROH2B-like, HEAT repeats
HEAT_Maestro_2aa 254–910UCSCMROH2B-like, HEAT repeats
HEAT_Maestroaa 934–1163UCSCMaestro, HEAT repeats
HEAT_MROH2B_Caa 1355–1629UCSCMROH2B-like, HEAT repeats
HEATaa 1611–1641UCSCHEAT repeat

Gene Aliases

HGNC Name

maestro heat like repeat family member 1

HGNC Previous Symbol

HEATR7A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_032450.3
p.D521N
c.1561G>A
Surrounding Variants
1 paper
NM_032450.3
p.G519R
c.1555G>A
1 paper
NM_032450.3
p.G519R
c.1555G>C
1 paper
NM_032450.3
p.Y527S
c.1580A>C
1 paper
NM_032450.3
p.P494L
c.1481C>T
1 paper
NM_032450.3
p.D460N
c.1378G>A
1 paper
NM_032450.3
p.G555A
c.1664G>C
1 paper
NM_032450.3
p.A559V
c.1676C>T
1 paper
NM_032450.3
p.R562C
c.1684C>T
1 paper
NM_032450.3
p.P584Q
c.1751C>A
1 paper
NM_032450.3
p.P584L
c.1751C>T
1 paper
NM_032450.3
p.E671Q
c.2011G>C
1 paper
NM_032450.3
p.T675M
c.2024C>T
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