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

1 paper

NM_005920.4

p.R129W

c.385C>T

Surrounding Variants

1 paper

NM_005920.4

p.Y131F

c.392A>T

1 paper

NM_005920.4

p.R119C

c.355C>T

1 paper

NM_005920.4

p.Y117F

c.350A>T

1 paper

NM_005920.4

p.L107P

c.320T>C

1 paper

NM_005920.4

p.D102G

c.305A>G

1 paper

NM_005920.4

p.C96S

c.286T>A

1 paper

NM_005920.4

p.N94N

c.282C>T

1 paper

NM_005920.4

p.L88P

c.263T>C

1 paper

NM_005920.4

p.L88Q

c.263T>A

1 paper

NM_005920.4

p.E86_T87Splc

c.259-183C>T

1 paper

NM_005920.4

p.T134A

c.400A>G

1 paper

NM_005920.4

p.S153S

c.459A>G