Varaico: Literature-Extracted Genetic Variants

MROH2A

65 papers

RefSeq Summary

This gene encodes a HEAT-domain-containing protein. The function of the encoded protein has not been characterized. [provided by RefSeq, Aug 2016].

Pfam Domains

HEAT_MROH2B_1staa 69–287UCSCMROH2B-like, HEAT repeats

HEAT_Maestro_2aa 291–940UCSCMROH2B-like, HEAT repeats

HEAT_Maestroaa 964–1191UCSCMaestro, HEAT repeats

HEAT_MROH2B_Caa 1388–1659UCSCMROH2B-like, HEAT repeats

Gene Aliases

HGNC Name

maestro heat like repeat family member 2A

HGNC Previous Symbol

HEATR7B1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001394639.1

p.M225T

c.674T>C

Surrounding Variants

1 paper

NM_001394639.1

p.C229fs

c.685_686fs

3 papers

NM_001394639.1

p.Q233R

c.698A>G

1 paper

NM_001394639.1

p.Y244_P245delFs

c.731_734del4

1 paper

NM_001394639.1

p.Y244*

c.732C>A

1 paper

NM_001394639.1

p.P258S

c.772C>T

2 papers

NM_001394639.1

p.Y271H

c.811T>C

1 paper

NM_001394639.1

p.G278W

c.832G>T

1 paper

NM_001394639.1

p.E298*

c.892G>T

1 paper

NM_001394639.1

p.Y301F

c.902A>T

1 paper

NM_001394639.1

p.D302Y

c.904G>T

1 paper

NM_001394639.1

p.Y303C

c.908A>G

1 paper

NM_001394639.1

p.P305P

c.915C>T