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

2 papers

NM_002397.5

p.Y33*

c.99T>A

Surrounding Variants

3 papers

NM_002397.5

p.Y33*

c.99T>G

9 papers

NM_002397.5

p.E34*

c.100G>T

7 papers

NM_002397.5

p.Y33insFs

c.99dupT

1 paper

NM_002397.5

p.Y33D

c.97T>G

1 paper

NM_002397.5

p.L35L

c.103C>T

2 papers

NM_002397.5

p.L35P

c.104T>C

2 papers

NM_002397.5

p.K31K

c.93G>A

2 papers

NM_002397.5

p.S36R

c.106A>C

3 papers

NM_002397.5

p.K30N

c.90G>T

3 papers

NM_002397.5

p.K30N

c.90G>C

1 paper

NM_002397.5

p.S36S

c.108C>T

2 papers

NM_002397.5

p.S36R

c.108C>G