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.S738insFs

c.2214dupT

Surrounding Variants

1 paper

NM_004991.4

p.E739*

c.2215G>T

1 paper

NM_004991.4

p.Q734R

c.2201A>G

1 paper

NM_004991.4

p.T745A

c.2233A>G

2 papers

NM_004991.4

p.R748Q

c.2243G>A

1 paper

NM_004991.4

p.E729fs

c.2185_2186fs

1 paper

NM_004991.4

p.T746_R748del3

c.2236_2243del9

1 paper

NM_004991.4

p.E751K

c.2251G>A

1 paper

NM_004991.4

p.T746_D750del5

c.2236_2249del15

1 paper

NM_004991.4

p.T745_D750del6

c.2233_2249del18

3 papers

NM_004991.4

p.E751G

c.2252A>G

1 paper

NM_004991.4

p.K752R

c.2255A>G

1 paper

NM_004991.4

p.S759P

c.2275T>C