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.P39L

c.116C>T

Surrounding Variants

1 paper

NM_004991.4

p.P39A

c.115C>G

2 papers

NM_004991.4

p.I43F

c.127A>T

1 paper

NM_004991.4

p.E45*

c.133G>T

1 paper

NM_004991.4

p.P49S

c.145C>T

1 paper

NM_004991.4

p.T51_S52insA

c.151_155ins3

1 paper

NM_004991.4

p.S53delFs

c.157_158delCT

1 paper

NM_004991.4

p.I24I

c.72A>T

1 paper

NM_004991.4

p.E23delFs

c.67delC

1 paper

NM_004991.4

p.P22L

c.65C>T

1 paper

NM_004991.4

p.N13_Y21delFs

c.38_62del25

2 papers

NM_004991.4

p.T57I

c.170C>T

1 paper

NM_004991.4

p.P58fs

c.172_173fs