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.E74K

c.220G>A

Surrounding Variants

8 papers

NM_002397.5

p.E74*

c.220G>T

1 paper

NM_002397.5

p.N73insFs

c.218_219insA

1 paper

NM_002397.5

p.P75L

c.224C>T

2 papers

NM_002397.5

p.H76fs

c.226_227fs

1 paper

NM_002397.5

p.H76L

c.227A>T

1 paper

NM_002397.5

p.E77G

c.230A>G

1 paper

NM_002397.5

p.S78C

c.232A>T

1 paper

NM_002397.5

p.S78N

c.233G>A

1 paper

NM_002397.5

p.Y69C

c.206A>G

2 papers

NM_002397.5

p.Y69H

c.205T>C

5 papers

NM_002397.5

p.R79P

c.236G>C

8 papers

NM_002397.5

p.H76_R79delFs

c.226_236del11