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.Y57F

c.170A>T

Surrounding Variants

1 paper

NM_005920.4

p.Y57Y

c.171C>T

1 paper

NM_005920.4

p.T60T

c.180C>T

1 paper

NM_005920.4

p.D63A

c.188A>C

1 paper

NM_005920.4

p.I47I

c.141C>T

1 paper

NM_005920.4

p.L45H

c.134T>A

1 paper

NM_005920.4

p.Y69F

c.206A>T

1 paper

NM_005920.4

p.Y69C

c.206A>G

1 paper

NM_005920.4

p.T70A

c.208A>G

1 paper

NM_005920.4

p.T70T

c.210G>A

1 paper

NM_005920.4

p.Y72F

c.215A>T

1 paper

NM_005920.4

p.S78R

c.232A>C

1 paper

NM_005920.4

p.S78R

c.234C>G