Varaico: Literature-Extracted Genetic Variants

MEF2A

164 papers

RefSeq Summary

The protein encoded by this gene is a DNA-binding transcription factor that activates many muscle-specific, growth factor-induced, and stress-induced genes. The encoded protein can act as a homodimer ...

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 2A

HGNC Alias Symbols

RSRFC4; RSRFC9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001319206.4

p.Y338H

c.1012T>C

Surrounding Variants

2 papers

NM_001319206.4

p.S342del1

c.1024_1025delAGC

4 papers

NM_001319206.4

p.S342_A343del2

c.1024_1028del6

1 paper

NM_001319206.4

p.S342_L348del0

c.1024_1044del21

1 paper

NM_001319206.4

p.A343_D344del0

c.1027_1032del6

2 papers

NM_001319206.4

p.A343del1

c.1027_1028delGCT

1 paper

NM_001319206.4

p.A343_L345delFs

c.1029_1033del5

1 paper

NM_001319206.4

p.A343_D344delFs

c.1029_1030delTG

1 paper

NM_001319206.4

p.D344G

c.1031A>G

1 paper

NM_001319206.4

p.S346*

c.1037C>G

1 paper

NM_001319206.4

p.A347_L348del0

c.1039_1044del6

1 paper

NM_001319206.4

p.L348del1

c.1042_1044delCTT

1 paper

NM_001319206.4

p.L348_Q349ins3

c.1044_1045ins9