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.I643T

c.1928T>C

Surrounding Variants

1 paper

NM_004991.4

p.F644S

c.1931T>C

1 paper

NM_004991.4

p.L648V

c.1942T>G

1 paper

NM_001164000.2

p.K448_E449delFs

c.1344_1347del4

1 paper

NM_004991.4

p.E649Q

c.1945G>C

1 paper

NM_001105078.4

p.E449V

c.1346A>T

1 paper

NM_004991.4

p.E637K

c.1909G>A

1 paper

NM_001164000.2

p.K448fs

c.1342_1343fs

1 paper

NM_004991.4

p.K636I

c.1907A>T

1 paper

NM_004991.4

p.F644_Q651del8

c.1930_1952del24

1 paper

NM_004991.4

p.N633T

c.1898A>C

3 papers

NM_001105078.4

p.K434_S436delFs

c.1302_1306del5

NM_004991.4

p.K622_S624delFs

c.1866_1870del5

1 paper

NM_004991.4

p.V623fs

c.1867_1868fs