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

7 papers

NM_001105078.4

p.Q107R

c.320A>G

NM_004991.4

p.Q295R

c.884A>G

Surrounding Variants

1 paper

NM_004991.4

p.P297S

c.889C>T

1 paper

NM_004991.4

p.P297_K298ins4

c.889_893ins12

1 paper

NM_004991.4

p.A299S

c.895G>T

1 paper

NM_004991.4

p.A299T

c.895G>A

1 paper

NM_004991.4

p.S284_E287del4

c.850_860del12

1 paper

NM_004991.4

p.N301_W302del2

c.901_905del6

1 paper

NM_004991.4

p.S284delFs

c.851delG

1 paper

NM_004991.4

p.R308C

c.922C>T

1 paper

NM_004991.4

p.K280I

c.839A>T

1 paper

NM_004991.4

p.D314Y

c.940G>T

1 paper

NM_004991.4

p.D314E

c.942C>G

1 paper

NM_004991.4

p.K317N

c.951G>T