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

2 papers

NM_001394639.1

p.Y140F

c.419A>T

Surrounding Variants

1 paper

NM_001394639.1

p.R155*

c.463C>T

1 paper

NM_001394639.1

p.Q166R

c.497A>G

1 paper

NM_001394639.1

p.D176N

c.526G>A

1 paper

NM_001394639.1

p.L186P

c.557T>C

1 paper

NM_001394639.1

p.A125G

c.374C>G

1 paper

NM_001394639.1

p.V120M

c.358G>A

1 paper

NM_001394639.1

p.E116_Q118del0

c.346_354del9

1 paper

NM_001394639.1

p.I108I

c.324C>T

1 paper

NM_001394639.1

p.G199D

c.596G>A

1 paper

NM_001394639.1

p.M208V

c.622A>G

1 paper

NM_001394639.1

p.L209P

c.626T>C

1 paper

NM_001394639.1

p.M225T

c.674T>C