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.F80Y

c.239T>A

Surrounding Variants

1 paper

NM_004991.4

p.L82F

c.244C>T

1 paper

NM_004991.4

p.L82R

c.245T>G

1 paper

NM_004991.4

p.A78T

c.232G>A

1 paper

NM_004991.4

p.R83*

c.247C>T

1 paper

NM_004991.4

p.R83Q

c.248G>A

1 paper

NM_004991.4

p.P75delFs

c.224delG

1 paper

NM_004991.4

p.S85P

c.253T>C

3 papers

NM_004991.4

p.I74I

c.222C>A

1 paper

NM_004991.4

p.N86D

c.256A>G

1 paper

NM_004991.4

p.M87T

c.260T>C

1 paper

NM_004991.4

p.M87K

c.260T>A

1 paper

NM_004991.4

p.P88S

c.262C>T