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.C381_H382delFs

c.1143_1146del4

Surrounding Variants

1 paper

NM_004991.4

p.C381S

c.1142G>C

1 paper

NM_004991.4

p.C381S

c.1141T>A

1 paper

NM_004991.4

p.Y385C

c.1154A>G

1 paper

NM_004991.4

p.V380ins2

c.1139_1140ins6

1 paper

NM_004991.4

p.C378Splc

c.1133-1G>A

1 paper

NM_004991.4

p.C378Splc

c.1133-2A>G

1 paper

NM_004991.4

p.C392fs

c.1174_1175fs

1 paper

NM_004991.4

p.C392delFs

c.1174delA

1 paper

NM_004991.4

p.K395T

c.1184A>C

1 paper

NM_004991.4

p.C401Y

c.1202G>A

1 paper

NM_004991.4

p.R402delFs

c.1206delT

1 paper

NM_004991.4

p.T403delFs

c.1209delG