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_001105077.4

p.R351fs

c.1051_1052fs

Surrounding Variants

1 paper

NM_004991.4

p.N473S

c.1418A>G

1 paper

NM_004991.4

p.A472T

c.1414G>A

1 paper

NM_004991.4

p.G478delFs

c.1433delC

1 paper

NM_004991.4

p.L479F

c.1435C>T

1 paper

NM_004991.4

p.F481ins2

c.1441_1442ins6

1 paper

NM_004991.4

p.P482A

c.1444C>G

1 paper

NM_004991.4

p.P464Q

c.1391C>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.G486_F487delFs

c.1458_1459delAT

1 paper

NM_004991.4

p.M459fs

c.1375_1376fs

1 paper

NM_004991.4

p.V457_N458delFs

c.1369_1372del4