Varaico: Literature-Extracted Genetic Variants

MEF2C

328 papers

RefSeq Summary

This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activati...

Pfam Domains

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

HJURP_Caa 95–155UCSCHolliday junction regulator protein family C-terminal repeat

Gene Aliases

HGNC Name

myocyte enhancer factor 2C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002397.5

p.M12I

c.36G>A

Surrounding Variants

1 paper

NM_002397.5

p.I11_M12insFs

c.33_34insT

1 paper

NM_002397.5

p.I11delFs

c.32delA

1 paper

NM_002397.5

p.I11insFs

c.31dupA

1 paper

NM_002397.5

p.E14K

c.40G>A

1 paper

NM_002397.5

p.E14A

c.41A>C

1 paper

NM_002397.5

p.R10S

c.30G>T

1 paper

NM_002397.5

p.R10S

c.30G>C

9 papers

NM_002397.5

p.R15C

c.43C>T

1 paper

NM_002397.5

p.R15L

c.44G>T

4 papers

NM_002397.5

p.R15P

c.44G>C

1 paper

NM_002397.5

p.R15H

c.44G>A

6 papers

NM_002397.5

p.T9T

c.27G>A