Varaico: Literature-Extracted Genetic Variants

MECOM

389 papers

RefSeq Summary

The protein encoded by this gene is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, apoptosis, development, and cell differentiation and proliferation. The encoded p...

Pfam Domains

zf-C2H2_6aa 76–100UCSCC2H2-type zinc finger

PRDM2_PRaa 80–201UCSCPR domain zinc finger protein 2, PR domain

zf-C2H2aa 103–125UCSCZinc finger, C2H2 type

zf-C2H2aa 131–155UCSCZinc finger, C2H2 type

zf-C2H2aa 161–183UCSCZinc finger, C2H2 type

zf-C2H2aa 189–211UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

MDS1 and EVI1 complex locus

HGNC Previous Symbols

MDS1; EVI1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004991.4

p.V457_N458delFs

c.1369_1372del4

Surrounding Variants

1 paper

NM_004991.4

p.M459fs

c.1375_1376fs

1 paper

NM_004991.4

p.V457I

c.1369G>A

1 paper

NM_004991.4

p.M456K

c.1367T>A

1 paper

NM_004991.4

p.T454K

c.1361C>A

1 paper

NM_004991.4

p.N463S

c.1388A>G

1 paper

NM_004991.4

p.N463T

c.1388A>C

1 paper

NM_004991.4

p.P464Q

c.1391C>A

1 paper

NM_004991.4

p.D452A

c.1355A>C

1 paper

NM_004991.4

p.A450fs

c.1348_1349fs

1 paper

NM_004991.4

p.A450T

c.1348G>A

1 paper

NM_004991.4

p.T448N

c.1343C>A

1 paper

NM_004991.4

p.A472T

c.1414G>A