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

5 papers

NM_001319206.4

p.D410del1

c.1228_1230delGAT

Surrounding Variants

6 papers

NM_001319206.4

p.D410_R411del0

c.1228_1233del6

1 paper

NM_001319206.4

p.D410_G416del0

c.1228_1248del21

2 papers

NM_001319206.4

p.R411del1

c.1231_1233delCGT

1 paper

NM_001319206.4

p.P408H

c.1223C>A

1 paper

NM_001319206.4

p.R411_M412ins5

c.1231_1235ins15

1 paper

NM_001319206.4

p.R411_M412delFs

c.1233_1234delTA

1 paper

NM_001319206.4

p.R411_T413delFs

c.1233_1237del5

1 paper

NM_001319206.4

p.M412_T413del0

c.1234_1239del6

1 paper

NM_001319206.4

p.S415_G416del0

c.1243_1248del6

1 paper

NM_001319206.4

p.G416del1

c.1246_1248delGGC

1 paper

NM_001319206.4

p.F417_Q423del0

c.1250_1267del18

1 paper

NM_001319206.4

p.S402P

c.1204T>C