Varaico: Literature-Extracted Genetic Variants

Gene:MROH2B
Variant:p.I387M

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.I387M
c.1161T>G
Surrounding Variants
1 paper
NM_173489.5
p.L395S
c.1184T>C
1 paper
NM_173489.5
p.T380S
c.1138A>T
1 paper
NM_173489.5
p.T380P
c.1138A>C
1 paper
NM_173489.5
p.E411K
c.1231G>A
1 paper
NM_173489.5
p.N421K
c.1263T>A
1 paper
NM_173489.5
p.S427S
c.1281T>C
2 papers
NM_173489.5
p.L436_V443del8
c.1306_1328del24
1 paper
NM_173489.5
p.Q448H
c.1344G>T
1 paper
NM_173489.5
p.Q448H
c.1344G>C
1 paper
NM_173489.5
p.S367R
c.1101T>G
1 paper
NM_173489.5
p.S367R
c.1101T>A
1 paper
NM_173489.5
p.S367R
c.1099A>C
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