Varaico: Literature-Extracted Genetic Variants

Gene:MROH2B
Variant:p.R685Q

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
3 papers
NM_173489.5
p.R685Q
c.2054G>A
Surrounding Variants
1 paper
NM_173489.5
p.R685*
c.2053C>T
1 paper
NM_173489.5
p.S727F
c.2180C>T
2 papers
NM_173489.5
p.D648V
c.1943A>T
1 paper
NM_173489.5
p.S634*
c.1901C>G
1 paper
NM_173489.5
p.S634*
c.1901C>A
1 paper
NM_173489.5
p.T621T
c.1863C>A
1 paper
NM_173489.5
p.Y605*
c.1815C>G
1 paper
NM_173489.5
p.Y605*
c.1815C>A
1 paper
NM_173489.5
p.D597N
c.1789G>A
1 paper
NM_173489.5
p.G763V
c.2288G>T
1 paper
NM_173489.5
p.A765S
c.2293G>T
1 paper
NM_173489.5
p.Q593*
c.1777C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."