Varaico: Literature-Extracted Genetic Variants

Gene:MROH2B
Variant:p.D1413N

MROH2B

139 papers

Pfam Domains

HEAT_MROH2B_1staa 14–217UCSCMROH2B-like, HEAT repeats
HEAT_Maestro_2aa 221–879UCSCMROH2B-like, HEAT repeats
HEAT_Maestroaa 903–1118UCSCMaestro, HEAT repeats
HEAT_MROH2B_Caa 1304–1575UCSCMROH2B-like, HEAT repeats

Gene Aliases

HGNC Name

maestro heat like repeat family member 2B

HGNC Previous Symbol

HEATR7B2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_173489.5
p.D1413N
c.4237G>A
Surrounding Variants
1 paper
NM_173489.5
p.R1404G
c.4210A>G
1 paper
NM_173489.5
p.A1427fs
c.4279_4280fs
3 papers
NM_173489.5
p.A1427Fs
c.4279delinsTGFs
1 paper
NM_173489.5
p.P1444S
c.4330C>T
1 paper
NM_173489.5
p.K1447N
c.4341G>T
1 paper
NM_173489.5
p.K1447N
c.4341G>C
1 paper
NM_173489.5
p.G1449R
c.4345G>C
1 paper
NM_173489.5
p.G1449R
c.4345G>A
1 paper
NM_173489.5
p.R1453C
c.4357C>T
2 papers
NM_173489.5
p.R1453H
c.4358G>A
1 paper
NM_173489.5
p.C1459F
c.4376G>T
1 paper
NM_173489.5
p.R1474H
c.4421G>A
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