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.Q237*

c.709C>T

Surrounding Variants

1 paper

NM_002397.5

p.L226_M236del11

c.676_707del33

1 paper

NM_002397.5

p.S240A

c.718T>G

1 paper

NM_002397.5

p.L232L

c.694T>C

1 paper

NM_002397.5

p.P243_M244insFs

c.729_730insTT

13 papers

NM_002397.5

p.S228*

c.683C>G

12 papers

NM_002397.5

p.S228*

c.683C>A

1 paper

NM_002397.5

p.R251H

c.752G>A

1 paper

NM_002397.5

p.K252R

c.755A>G

1 paper

NM_002397.5

p.R220Q

c.659G>A

1 paper

NM_002397.5

p.R220*

c.658C>T

8 papers

NM_002397.5

p.R256*

c.766C>T

1 paper

NM_002397.5

p.N218_P219insA

c.652_656ins3