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

6 papers

NM_004991.4

p.K613delFs

c.1839delT

Surrounding Variants

2 papers

NM_004991.4

p.K613fs

c.1837_1838fs

1 paper

NM_004991.4

p.F612C

c.1835T>G

1 paper

NM_004991.4

p.E614delFs

c.1842delT

1 paper

NM_004991.4

p.G616V

c.1847G>T

1 paper

NM_004991.4

p.K617insFs

c.1850dupA

1 paper

NM_004991.4

p.D608N

c.1822G>A

1 paper

NM_001105078.4

p.E418G

c.1253A>G

2 papers

NM_001105078.4

p.K434fs

c.1300_1301fs

1 paper

NM_004991.4

p.I605L

c.1813A>C

1 paper

NM_004991.4

p.V623fs

c.1867_1868fs

3 papers

NM_001105078.4

p.K434_S436delFs

c.1302_1306del5

NM_004991.4

p.K622_S624delFs

c.1866_1870del5

1 paper

NM_004991.4

p.N633T

c.1898A>C