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

5 papers

NM_004991.4

p.H939R

c.2816A>G

NM_001105078.4

p.H751R

c.2252A>G

Surrounding Variants

3 papers

NM_001105078.4

p.H751Y

c.2251C>T

NM_004991.4

p.H939Y

c.2815C>T

1 paper

NM_004991.4

p.R938Q

c.2813G>A

7 papers

NM_004991.4

p.R938W

c.2812C>T

NM_001105077.4

p.R815W

c.2443C>T

NM_001105078.4

p.R750W

c.2248C>T

4 papers

NM_001105078.4

p.T756A

c.2266A>G

NM_004991.4

p.T944A

c.2830A>G

1 paper

NM_004991.4

p.T944I

c.2831C>T

2 papers

NM_004991.4

p.T944R

c.2831C>G

NM_001105078.4

p.T756R

c.2267C>G

1 paper

NM_004991.4

p.G945R

c.2833G>A

1 paper

NM_004991.4

p.G945E

c.2834G>A

2 papers

NM_001105078.4

p.E758K

c.2272G>A

NM_004991.4

p.E946K

c.2836G>A

3 papers

NM_001105078.4

p.Q759L

c.2276A>T

NM_004991.4

p.Q947L

c.2840A>T

3 papers

NM_001105078.4

p.P760S

c.2278C>T

NM_004991.4

p.P948S

c.2842C>T

3 papers

NM_004991.4

p.P948A

c.2842C>G

NM_001105077.4

p.P825A

c.2473C>G

NM_001105078.4

p.P760A

c.2278C>G