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

1–12 of 155 variants

7 papers

NM_001319206.4

p.P277L

c.830C>T

7 papers

NM_001319206.4

p.Q422del1

c.1264_1265delCAG

6 papers

NM_001319206.4

p.D410_R411del0

c.1228_1233del6

5 papers

NM_001319206.4

p.D410del1

c.1228_1230delGAT

4 papers

NM_001319206.4

p.S342_A343del2

c.1024_1028del6

4 papers

NM_001319206.4

p.Q420P

c.1259A>C

3 papers

NM_001319206.4

p.P99S

c.295C>T

3 papers

NM_001319206.4

p.R114_F115delFs

c.342_343delAT

3 papers

NM_001319206.4

p.N137delFs

c.410delA

3 papers

NM_001319206.4

p.N352T

c.1055A>C

3 papers

NM_001319206.4

p.Q419_Q420del2

c.1255_1259del6

3 papers

NM_001319206.4

p.P435S

c.1303C>T