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.K5M

c.14A>T

Surrounding Variants

1 paper

NM_002397.5

p.K5T

c.14A>C

1 paper

NM_002397.5

p.I6N

c.17T>A

1 paper

NM_002397.5

p.K4I

c.11A>T

1 paper

NM_002397.5

p.K4R

c.11A>G

2 papers

NM_002397.5

p.K4E

c.10A>G

1 paper

NM_002397.5

p.K4Q

c.10A>C

2 papers

NM_002397.5

p.Q7*

c.19C>T

8 papers

NM_002397.5

p.R3S

c.9A>T

7 papers

NM_002397.5

p.R3S

c.9A>C

7 papers

NM_002397.5

p.R3T

c.8G>C

1 paper

NM_002397.5

p.R3*

c.7A>T

1 paper

NM_002397.5

p.R3G

c.7A>G