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

3 papers

NM_005920.4

p.Q18L

c.53A>T

Surrounding Variants

1 paper

NM_005920.4

p.R17Q

c.50G>A

1 paper

NM_005920.4

p.E14G

c.41A>G

1 paper

NM_005920.4

p.K4E

c.10A>G

1 paper

NM_005920.4

p.R3S

c.9G>T

1 paper

NM_005920.4

p.R3S

c.9G>C

1 paper

NM_005920.4

p.R3T

c.8G>C

3 papers

NM_005920.4

p.R24W

c.70C>T

2 papers

NM_005920.4

p.R24L

c.71G>T

1 paper

NM_005920.4

p.Y33F

c.98A>T

1 paper

NM_005920.4

p.E34A

c.101A>C

1 paper

NM_005920.4

p.L45H

c.134T>A

1 paper

NM_005920.4

p.I47I

c.141C>T