Varaico: Literature-Extracted Genetic Variants

Gene:MROH1
Variant:p.V988M

MROH1

44 papers

Pfam Domains

HEAT_MROH2B_1staa 32–251UCSCMROH2B-like, HEAT repeats
HEAT_Maestro_2aa 254–910UCSCMROH2B-like, HEAT repeats
HEAT_Maestroaa 934–1163UCSCMaestro, HEAT repeats
HEAT_MROH2B_Caa 1355–1629UCSCMROH2B-like, HEAT repeats
HEATaa 1611–1641UCSCHEAT repeat

Gene Aliases

HGNC Name

maestro heat like repeat family member 1

HGNC Previous Symbol

HEATR7A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032450.3
p.V988M
c.2962G>A
Surrounding Variants
1 paper
NM_032450.3
p.L997F
c.2989C>T
1 paper
NM_032450.3
p.R1006W
c.3016C>T
1 paper
NM_032450.3
p.A1013A
c.3039G>A
1 paper
NM_032450.3
p.R1015Q
c.3044G>A
4 papers
NM_032450.3
p.S1037G
c.3109A>G
1 paper
NM_032450.3
p.G1039D
c.3116G>A
1 paper
NM_032450.3
p.M1058T
c.3173T>C
1 paper
NM_032450.3
p.E860D
c.2580G>C
1 paper
NM_032450.3
p.E860D
c.2580G>T
1 paper
NM_032450.3
p.R837G
c.2509A>G
1 paper
NM_032450.3
p.V796L
c.2386G>C
1 paper
NM_032450.3
p.V796L
c.2386G>T
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