Varaico: Literature-Extracted Genetic Variants

MEF2A

164 papers

RefSeq Summary

The protein encoded by this gene is a DNA-binding transcription factor that activates many muscle-specific, growth factor-induced, and stress-induced genes. The encoded protein can act as a homodimer ...

Pfam Domains

SRF-TFaa 10–57UCSCSRF-type transcription factor (DNA-binding and dimerisation domain)

HJURP_Caa 95–154UCSCHolliday junction regulator protein family C-terminal repeat

Gene Aliases

HGNC Name

myocyte enhancer factor 2A

HGNC Alias Symbols

RSRFC4; RSRFC9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001365201.3

p.A245P

c.733G>C

Surrounding Variants

1 paper

NM_001365204.3

p.G240*

c.718G>T

1 paper

NM_005587.6

p.S246G

c.736A>G

1 paper

NM_005587.6

p.S235Y

c.704C>A

1 paper

NM_001319206.4

p.G260G

c.780T>G

3 papers

NM_001319206.4

p.N261S

c.782A>G

NM_005587.6

p.N263S

c.788A>G

1 paper

NM_005587.6

p.P271R

c.812C>G

1 paper

NM_001319206.4

p.P276L

c.827C>T

1 paper

NM_005587.6

p.P279A

c.835C>G

9 papers

NM_001319206.4

p.P277L

c.830C>T

NM_005587.6

p.P279L

c.836C>T

2 papers

NM_005587.6

p.G283D

c.848G>A

NM_001319206.4

p.G281D

c.842G>A

1 paper

NM_005587.6

p.P287R

c.860C>G