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.G677R

c.2029G>A

Surrounding Variants

1 paper

NM_004991.4

p.L678P

c.2033T>C

1 paper

NM_004991.4

p.V679A

c.2036T>C

2 papers

NM_004991.4

p.L678delFs

c.2034delC

1 paper

NM_004991.4

p.G680G

c.2040G>A

1 paper

NM_004991.4

p.E670K

c.2008G>A

1 paper

NM_004991.4

p.L689F

c.2067A>T

1 paper

NM_004991.4

p.L689F

c.2067A>C

2 papers

NM_004991.4

p.Y691C

c.2072A>G

1 paper

NM_004991.4

p.P701S

c.2101C>T

1 paper

NM_004991.4

p.P701L

c.2102C>T

1 paper

NM_004991.4

p.F644_Q651del8

c.1930_1952del24

1 paper

NM_004991.4

p.E649Q

c.1945G>C