Varaico: Literature-Extracted Genetic Variants

MEF2D

134 papers

RefSeq Summary

This gene is a member of the myocyte-specific enhancer factor 2 (MEF2) family of transcription factors. Members of this family are involved in control of muscle and neuronal cell differentiation and d...

Pfam Domains

SRF-TFaa 10–57UCSCSRF-type transcription factor (DNA-binding and dimerisation domain)

HJURP_Caa 95–154UCSCHolliday junction regulator protein family C-terminal repeat

Gene Aliases

HGNC Name

myocyte enhancer factor 2D

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_005920.4

p.R177W

c.529C>T

Surrounding Variants

1 paper

NM_005920.4

p.T174M

c.521C>T

1 paper

NM_005920.4

p.S180P

c.538T>C

1 paper

NM_005920.4

p.Q182_Q183insFs

c.546_547ins34

1 paper

NM_005920.4

p.Q183fs

c.547_548fs

1 paper

NM_005920.4

p.L195L

c.583C>T

1 paper

NM_005920.4

p.Q197L

c.590A>T

1 paper

NM_005920.4

p.S153S

c.459A>G

1 paper

NM_005920.4

p.A202A

c.606G>A

1 paper

NM_005920.4

p.T134A

c.400A>G

1 paper

NM_005920.4

p.A213V

c.638C>T

1 paper

NM_005920.4

p.Y131F

c.392A>T

1 paper

NM_005920.4

p.R129W

c.385C>T