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.Q427P

c.1280A>C

Surrounding Variants

1 paper

NM_001319206.4

p.Q428_P431del0

c.1283_1291del9

2 papers

NM_001130928.4

p.Q350_P353del0

c.1050_1058del9

2 papers

NM_001130928.4

p.Q350_P353del4

c.1048_1058del12

1 paper

NM_001319206.4

p.P429Q

c.1286C>A

1 paper

NM_001319206.4

p.P432_P433del1

c.1296_1298delACC

1 paper

NM_001319206.4

p.P431Q

c.1292C>A

1 paper

NM_001319206.4

p.P431R

c.1292C>G

2 papers

NM_001319206.4

p.Q422P

c.1265A>C

1 paper

NM_001319206.4

p.P432R

c.1295C>G

1 paper

NM_001319206.4

p.P433del1

c.1297_1298delCCG

1 paper

NM_001319206.4

p.P433_P439del0

c.1297_1317del21

2 papers

NM_001319206.4

p.Q421P

c.1262A>C