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.Y225F

c.674A>T

Surrounding Variants

2 papers

NM_005920.4

p.V226I

c.676G>A

1 paper

NM_005920.4

p.G222Splc

c.665-6C>T

1 paper

NM_005920.4

p.P248S

c.742C>T

1 paper

NM_005920.4

p.K250fs

c.748_749fs

1 paper

NM_005920.4

p.S251A

c.751T>G

1 paper

NM_005920.4

p.P252L

c.755C>T

2 papers

NM_005920.4

p.P252P

c.756A>G

1 paper

NM_005920.4

p.T259A

c.775A>G

2 papers

NM_005920.4

p.P264L

c.791C>T

1 paper

NM_005920.4

p.R266C

c.796C>T

1 paper

NM_005920.4

p.R271ins4

c.812_813ins12

1 paper

NM_005920.4

p.V272I

c.814G>A