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

4 papers

NM_002397.5

p.R15P

c.44G>C

Surrounding Variants

1 paper

NM_002397.5

p.R15L

c.44G>T

1 paper

NM_002397.5

p.R15H

c.44G>A

9 papers

NM_002397.5

p.R15C

c.43C>T

1 paper

NM_002397.5

p.N16H

c.46A>C

2 papers

NM_002397.5

p.R15insFs

c.45dupT

1 paper

NM_002397.5

p.N16S

c.47A>G

1 paper

NM_002397.5

p.E14A

c.41A>C

1 paper

NM_002397.5

p.E14K

c.40G>A

10 papers

NM_002397.5

p.N16K

c.48C>G

9 papers

NM_002397.5

p.N16K

c.48C>A

1 paper

NM_002397.5

p.R17fs

c.49_50fs

1 paper

NM_002397.5

p.M12I

c.36G>A