Varaico: Literature-Extracted Genetic Variants

Gene:MROH7
Variant:p.R1031C

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
2 papers
NM_001039464.4
p.R1031C
c.3091C>T
Surrounding Variants
2 papers
NM_001039464.4
p.D1015N
c.3043G>A
1 paper
NM_001039464.4
p.H1013N
c.3037C>A
1 paper
NM_001039464.4
p.L1011M
c.3031C>A
3 papers
NM_001039464.4
p.R996C
c.2986C>T
2 papers
NM_001039464.4
p.A1037T
c.3109G>A
1 paper
NM_001039464.4
p.R1072W
c.3214C>T
2 papers
NM_001039464.4
p.A1080V
c.3239C>T
1 paper
NM_001039464.4
p.P1091L
c.3272C>T
1 paper
NM_001039464.4
p.D1095_A1096Splc
c.3285+1G>A
1 paper
NM_001039464.4
p.R1097Q
c.3290G>A
5 papers
NM_001039464.4
p.V1099D
c.3296T>A
1 paper
NM_001039464.4
p.V1100M
c.3298G>A
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