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

3 papers

NM_001319206.4

p.N137delFs

c.410delA

Surrounding Variants

1 paper

NM_001319206.4

p.N137delFs

c.410_411delAC

1 paper

NM_001319206.4

p.F138delFs

c.412_413delTT

1 paper

NM_001319206.4

p.M140delFs

c.419_420delTG

1 paper

NM_001319206.4

p.P145_T147delFs

c.433_439del7

1 paper

NM_001319206.4

p.V146_T147insFs

c.438_439ins10

1 paper

NM_001319206.4

p.P149L

c.446C>T

2 papers

NM_001319206.4

p.A151S

c.451G>T

1 paper

NM_001319206.4

p.S153A

c.457T>G

1 paper

NM_001365201.3

p.Y160C

c.479A>G

1 paper

NM_001319206.4

p.A168G

c.503C>G

1 paper

NM_001319206.4

p.T171insFs

c.512_513insGC

1 paper

NM_001319206.4

p.T173A

c.517A>G