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.L559V

c.1675C>G

Surrounding Variants

3 papers

NM_001105078.4

p.Q372*

c.1114C>T

NM_004991.4

p.Q560*

c.1678C>T

1 paper

NM_004991.4

p.Q560L

c.1679A>T

1 paper

NM_004991.4

p.S564_S565insFs

c.1692_1693insT

1 paper

NM_004991.4

p.D553Y

c.1657G>T

1 paper

NM_004991.4

p.E566*

c.1696G>T

1 paper

NM_004991.4

p.E566D

c.1698A>C

2 papers

NM_004991.4

p.V551L

c.1651G>T

4 papers

NM_004991.4

p.V551L

c.1651G>C

1 paper

NM_004991.4

p.S550P

c.1648T>C

1 paper

NM_004991.4

p.F570L

c.1708T>C

1 paper

NM_004991.4

p.F570L

c.1710T>G

1 paper

NM_004991.4

p.F570L

c.1710T>A