Varaico: Literature-Extracted Genetic Variants

Gene:MROH7
Variant:p.R1119H

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
1 paper
NM_001039464.4
p.R1119H
c.3356G>A
Surrounding Variants
1 paper
NM_001039464.4
p.E1125K
c.3373G>A
1 paper
NM_001039464.4
p.R1101H
c.3302G>A
1 paper
NM_001039464.4
p.R1101C
c.3301C>T
1 paper
NM_001039464.4
p.V1100M
c.3298G>A
5 papers
NM_001039464.4
p.V1099D
c.3296T>A
1 paper
NM_001039464.4
p.R1097Q
c.3290G>A
1 paper
NM_001039464.4
p.K1148E
c.3442A>G
1 paper
NM_001039464.4
p.C1149Y
c.3446G>A
1 paper
NM_001039464.4
p.L1153P
c.3458T>C
2 papers
NM_001039464.4
p.R1155H
c.3464G>A
1 paper
NM_001039464.4
p.L1188I
c.3562C>A
1 paper
NM_001039464.4
p.D1095_A1096Splc
c.3285+1G>A
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