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_001319206.4

p.F115delFs

c.343_344delTT

Surrounding Variants

1 paper

NM_001319206.4

p.F115delFs

c.343delT

1 paper

NM_001319206.4

p.R114delFs

c.342delA

3 papers

NM_001319206.4

p.R114_F115delFs

c.342_343delAT

1 paper

NM_001319206.4

p.K117_L118delFs

c.350_353del4

1 paper

NM_001319206.4

p.E112*

c.334G>T

1 paper

NM_001319206.4

p.P109L

c.326C>T

1 paper

NM_001319206.4

p.H107Y

c.319C>T

1 paper

NM_001319206.4

p.E106Q

c.316G>C

3 papers

NM_001319206.4

p.P99S

c.295C>T

1 paper

NM_001319206.4

p.S98T

c.293G>C

1 paper

NM_001319206.4

p.T87A

c.259A>G

3 papers

NM_001319206.4

p.N137delFs

c.410delA