Varaico: Literature-Extracted Genetic Variants

Gene:MROH1

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
1–12 of 70 variants
4 papers
NM_032450.3
p.S1037G
c.3109A>G
3 papers
NM_032450.3
p.D521N
c.1561G>A
2 papers
NM_032450.3
p.A38V
c.113C>T
2 papers
NM_032450.3
p.M250I
c.750G>A
2 papers
NM_032450.3
p.M250I
c.750G>C
2 papers
NM_032450.3
p.M250I
c.750G>T
1 paper
NM_032450.3
p.D19N
c.55G>A
1 paper
NM_032450.3
p.C29Y
c.86G>A
1 paper
NM_032450.3
p.R45C
c.133C>T
1 paper
NM_032450.3
p.T84K
c.251C>A
1 paper
NM_032450.3
p.S111N
c.332G>A
1 paper
NM_032450.3
p.R131C
c.391C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."