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

1–12 of 511 variants

11 papers

NM_004991.4

p.P120S

c.358C>T

6 papers

NM_004991.4

p.K613delFs

c.1839delT

5 papers

NM_004991.4

p.Q295R

c.884A>G

4 papers

NM_004991.4

p.A154S

c.460G>T

4 papers

NM_004991.4

p.V551L

c.1651G>C

4 papers

NM_001105078.4

p.R750W

c.2248C>T

4 papers

NM_001105078.4

p.H751R

c.2252A>G

3 papers

NM_004991.4

p.I74I

c.222C>A

3 papers

NM_004991.4

p.D143N

c.427G>A

3 papers

NM_004991.4

p.F153L

c.457T>C

3 papers

NM_004991.4

p.F153L

c.459C>G

3 papers

NM_004991.4

p.F153L

c.459C>A