Varaico: Literature-Extracted Genetic Variants

Gene:MROH7
Variant:p.V509A

MROH7

127 papers

Pfam Domains

HEAT_Maestro_2aa 433–553UCSCMROH2B-like, HEAT repeats
HEAT_Maestroaa 577–816UCSCMaestro, HEAT repeats
HEAT_MROH2B_Caa 1003–1268UCSCMROH2B-like, HEAT repeats

Gene Aliases

HGNC Name

maestro heat like repeat family member 7

HGNC Previous Symbols

C1orf175; HEATR8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
8 papers
NM_001039464.4
p.V509A
c.1526T>C
Surrounding Variants
1 paper
NM_001039464.4
p.L515R
c.1544T>G
1 paper
NM_001039464.4
p.S517F
c.1550C>T
1 paper
NM_001039464.4
p.R499W
c.1495C>T
1 paper
NM_001039464.4
p.E526K
c.1576G>A
1 paper
NM_001039464.4
p.L474F
c.1420C>T
1 paper
NM_001039464.4
p.Q467L
c.1400A>T
1 paper
NM_001039464.4
p.M463R
c.1388T>G
1 paper
NM_001039464.4
p.K461N
c.1383G>C
1 paper
NM_001039464.4
p.K461N
c.1383G>T
1 paper
NM_001039464.4
p.K455R
c.1364A>G
1 paper
NM_001039464.4
p.A451_E452delFs
c.1353_1354delAG
1 paper
NM_001039464.4
p.A451fs
c.1351_1352fs
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