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.T493Fs

c.1479delinsCGTFs

Surrounding Variants

1 paper

NM_005920.4

p.A500Fs

c.1500delinsCGTFs

1 paper

NM_005920.4

p.Y478F

c.1433A>T

1 paper

NM_005920.4

p.R514W

c.1540C>T

1 paper

NM_005920.4

p.R514Q

c.1541G>A

1 paper

NM_005920.4

p.W518_T519Splc

c.1554+1G>C

1 paper

NM_005920.4

p.P460Q

c.1379C>A

1 paper

NM_005920.4

p.R449C

c.1345C>T

1 paper

NM_005920.4

p.R447P

c.1340G>C

1 paper

NM_005920.4

p.P445S

c.1333C>T

2 papers

NM_005920.4

p.S444A

c.1330T>G

1 paper

NM_005920.4

p.H435Y

c.1303C>T

2 papers

NM_005920.4

p.P434R

c.1301C>G