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.K59insFs

c.177dupG

Surrounding Variants

1 paper

NM_004991.4

p.E60A

c.179A>C

1 paper

NM_004991.4

p.G61D

c.182G>A

1 paper

NM_004991.4

p.K59E

c.175A>G

1 paper

NM_004991.4

p.P58fs

c.172_173fs

1 paper

NM_004991.4

p.S62fs

c.184_185fs

2 papers

NM_004991.4

p.P63L

c.188C>T

2 papers

NM_004991.4

p.T57I

c.170C>T

1 paper

NM_004991.4

p.P63R

c.188C>G

1 paper

NM_004991.4

p.Y64N

c.190T>A

1 paper

NM_004991.4

p.Y64C

c.191A>G

1 paper

NM_004991.4

p.A66S

c.196G>T

1 paper

NM_004991.4

p.S53delFs

c.157_158delCT