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

1–12 of 96 variants

3 papers

NM_005920.4

p.Q18L

c.53A>T

3 papers

NM_005920.4

p.R24W

c.70C>T

2 papers

NM_005920.4

p.R24L

c.71G>T

2 papers

NM_005920.4

p.A82T

c.244G>A

2 papers

NM_005920.4

p.R177W

c.529C>T

2 papers

NM_005920.4

p.V226I

c.676G>A

2 papers

NM_005920.4

p.P252P

c.756A>G

2 papers

NM_005920.4

p.P264L

c.791C>T

2 papers

NM_005920.4

p.P434S

c.1300C>T

2 papers

NM_005920.4

p.P434R

c.1301C>G

2 papers

NM_005920.4

p.S444A

c.1330T>G

1 paper

NM_005920.4

p.R3T

c.8G>C