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.E112Q

c.334G>C

Surrounding Variants

1 paper

NM_004991.4

p.G111delFs

c.332delC

1 paper

NM_004991.4

p.G111A

c.332G>C

1 paper

NM_004991.4

p.G111R

c.331G>A

1 paper

NM_004991.4

p.V110L

c.328G>T

1 paper

NM_004991.4

p.V110L

c.328G>C

1 paper

NM_004991.4

p.S115insFs

c.343_344insGG

1 paper

NM_004991.4

p.N116D

c.346A>G

1 paper

NM_004991.4

p.G107E

c.320G>A

1 paper

NM_004991.4

p.F106L

c.318T>G

1 paper

NM_004991.4

p.L117P

c.350T>C

1 paper

NM_004991.4

p.F106L

c.318T>A

1 paper

NM_004991.4

p.F106L

c.316T>C