Varaico: Literature-Extracted Genetic Variants

Gene:MROH7
Variant:p.S588A

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.S588A
c.1762T>G
Surrounding Variants
1 paper
NM_001039464.4
p.R581Q
c.1742G>A
2 papers
NM_001039464.4
p.R579*
c.1735C>T
1 paper
NM_001039464.4
p.R614T
c.1841G>C
1 paper
NM_001039464.4
p.L615F
c.1843C>T
1 paper
NM_001039464.4
p.L615P
c.1844T>C
1 paper
NM_001039464.4
p.L617H
c.1850T>A
1 paper
NM_001039464.4
p.L617P
c.1850T>C
7 papers
NM_001039464.4
p.H618R
c.1853A>G
1 paper
NM_001039464.4
p.C628Y
c.1883G>A
1 paper
NM_001039464.4
p.E565_A566Splc
c.1695+149C>T
1 paper
NM_001039464.4
p.L560P
c.1679T>C
1 paper
NM_001039464.4
p.P557S
c.1669C>T
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