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

4 papers

NM_001319206.4

p.Q420P

c.1259A>C

Surrounding Variants

2 papers

NM_001319206.4

p.Q419P

c.1256A>C

2 papers

NM_001319206.4

p.Q421P

c.1262A>C

2 papers

NM_001319206.4

p.Q422P

c.1265A>C

1 paper

NM_001319206.4

p.F417_Q418ins3

c.1251_1252ins9

9 papers

NM_005587.6

p.Q412del1

c.1234_1236delCAG

NM_001319206.4

p.Q422del1

c.1264_1265delCAG

4 papers

NM_001365203.3

p.Q429_P431del0

c.1286_1291del6

NM_001319206.4

p.Q419_Q420del2

c.1255_1259del6

1 paper

NM_001319206.4

p.Q425_P429del0

c.1274_1285del12

1 paper

NM_001319206.4

p.Q424_P429del0

c.1271_1285del15

2 papers

NM_001319206.4

p.Q422_P429del0

c.1265_1285del21

1 paper

NM_001319206.4

p.F417_Q423del0

c.1250_1267del18

1 paper

NM_001319206.4

p.G416del1

c.1246_1248delGGC

2 papers

NM_001130928.4

p.Q350_P353del4

c.1048_1058del12