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.Q361H

c.1083G>C

Surrounding Variants

1 paper

NM_005587.6

p.G354A

c.1061G>C

1 paper

NM_001319206.4

p.P354L

c.1061C>T

1 paper

NM_001319206.4

p.P354A

c.1060C>G

3 papers

NM_001319206.4

p.N352T

c.1055A>C

1 paper

NM_001319206.4

p.G350_S353del0

c.1050_1058del9

1 paper

NM_001319206.4

p.G350_F351del0

c.1048_1053del6

1 paper

NM_001319206.4

p.G350_S353del4

c.1048_1058del12

1 paper

NM_001319206.4

p.L348_Q349ins3

c.1044_1045ins9

1 paper

NM_001319206.4

p.L348del1

c.1042_1044delCTT

1 paper

NM_001319206.4

p.A347_L348del0

c.1039_1044del6

1 paper

NM_001319206.4

p.S346*

c.1037C>G

1 paper

NM_001319206.4

p.D344G

c.1031A>G