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.T538fs

c.1612_1613fs

Surrounding Variants

1 paper

NM_004991.4

p.P536T

c.1606C>A

1 paper

NM_004991.4

p.Q533P

c.1598A>C

1 paper

NM_004991.4

p.S546fs

c.1636_1637fs

1 paper

NM_004991.4

p.S546delFs

c.1637delG

1 paper

NM_004991.4

p.T530I

c.1589C>T

1 paper

NM_004991.4

p.M529L

c.1585A>T

1 paper

NM_004991.4

p.M529L

c.1585A>C

1 paper

NM_004991.4

p.S550P

c.1648T>C

2 papers

NM_004991.4

p.V551L

c.1651G>T

4 papers

NM_004991.4

p.V551L

c.1651G>C

1 paper

NM_004991.4

p.D553Y

c.1657G>T

1 paper

NM_004991.4

p.L559V

c.1675C>G