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.K422_H423ins9

c.1264_1268ins27

Surrounding Variants

2 papers

NM_004991.4

p.H423delFs

c.1268delT

1 paper

NM_004991.4

p.S419F

c.1256C>T

1 paper

NM_004991.4

p.S419ins2

c.1255_1256ins6

1 paper

NM_004991.4

p.F426V

c.1276T>G

1 paper

NM_004991.4

p.T417P

c.1249A>C

1 paper

NM_004991.4

p.C427F

c.1280G>T

1 paper

NM_004991.4

p.G429R

c.1285G>C

1 paper

NM_004991.4

p.Q412*

c.1234C>T

1 paper

NM_004991.4

p.A434V

c.1301C>T

1 paper

NM_004991.4

p.A434_G436delFs

c.1302_1306del5

1 paper

NM_004991.4

p.T403delFs

c.1209delG

1 paper

NM_004991.4

p.R402delFs

c.1206delT