Varaico: Literature-Extracted Genetic Variants

Gene:MROH7
Variant:p.A1313P

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
4 papers
NM_001039464.4
p.A1313P
c.3937G>C
Surrounding Variants
2 papers
NM_001039464.4
p.R1307C
c.3919C>T
1 paper
NM_001039464.4
p.S1294R
c.3882C>A
1 paper
NM_001039464.4
p.S1294R
c.3882C>G
1 paper
NM_001039464.4
p.S1294R
c.3880A>C
1 paper
NM_001039464.4
p.P1278L
c.3833C>T
1 paper
NM_001039464.4
p.D1236N
c.3706G>A
1 paper
NM_001039464.4
p.G1223Splc
c.3668-57T>G
1 paper
NM_001039464.4
p.L1214F
c.3640C>T
1 paper
NM_001039464.4
p.R1211Q
c.3632G>A
1 paper
NM_001039464.4
p.R1193Q
c.3578G>A
1 paper
NM_001039464.4
p.L1188I
c.3562C>A
2 papers
NM_001039464.4
p.R1155H
c.3464G>A
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