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.P496L

c.1487C>T

Surrounding Variants

1 paper

NM_004991.4

p.P496S

c.1486C>T

1 paper

NM_004991.4

p.F491S

c.1472T>C

2 papers

NM_001105078.4

p.S302R

c.906C>G

2 papers

NM_001105078.4

p.S302R

c.906C>A

2 papers

NM_001105078.4

p.S302R

c.904A>C

1 paper

NM_004991.4

p.G486_F487delFs

c.1458_1459delAT

1 paper

NM_004991.4

p.S509ins2

c.1526_1527ins6

1 paper

NM_004991.4

p.S510P

c.1528T>C

1 paper

NM_004991.4

p.P482A

c.1444C>G

1 paper

NM_004991.4

p.F481ins2

c.1441_1442ins6

1 paper

NM_004991.4

p.V512delFs

c.1536delA

1 paper

NM_004991.4

p.L479F

c.1435C>T