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.A44V

c.131C>T

Surrounding Variants

1 paper

NM_002397.5

p.A44S

c.130G>T

1 paper

NM_002397.5

p.D40_E42ins1

c.120_125dup6

1 paper

NM_002397.5

p.I46T

c.137T>C

2 papers

NM_002397.5

p.I47fs

c.139_140fs

2 papers

NM_002397.5

p.I46delFs

c.138delG

1 paper

NM_002397.5

p.C41Y

c.122G>A

1 paper

NM_002397.5

p.C41R

c.121T>C

2 papers

NM_002397.5

p.N49fs

c.145_146fs

1 paper

NM_002397.5

p.C39F

c.116G>T

1 paper

NM_002397.5

p.C39S

c.116G>C

3 papers

NM_002397.5

p.C39R

c.115T>C

1 paper

NM_002397.5

p.C39S

c.115T>A