Varaico: Literature-Extracted Genetic Variants

PRDM16

388 papers

RefSeq Summary

The reciprocal translocation t(1;3)(p36;q21) occurs in a subset of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This gene is located near the 1p36.3 breakpoint and has been shown t...

Pfam Domains

PRDM2_PRaa 84–216UCSCPR domain zinc finger protein 2, PR domain

zf-C2H2_6aa 229–251UCSCC2H2-type zinc finger

zf-C2H2aa 281–303UCSCZinc finger, C2H2 type

zf-C2H2aa 309–331UCSCZinc finger, C2H2 type

zf-C2H2aa 337–360UCSCZinc finger, C2H2 type

zf-C2H2aa 366–388UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

PR/SET domain 16

HGNC Alias Symbols

MEL1; PFM13; KIAA1675; MGC166915; KMT8F

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022114.4

p.S599L

c.1796C>T

Surrounding Variants

1 paper

NM_022114.4

p.G601S

c.1801G>A

1 paper

NM_022114.4

p.D597N

c.1789G>A

1 paper

NM_022114.4

p.D603N

c.1807G>A

1 paper

NM_022114.4

p.D606G

c.1817A>G

1 paper

NM_022114.4

p.D606E

c.1818C>A

1 paper

NM_022114.4

p.D606E

c.1818C>G

3 papers

NM_022114.4

p.V588M

c.1762G>A

1 paper

NM_022114.4

p.T611M

c.1832C>T

1 paper

NM_022114.4

p.D585A

c.1754A>C

1 paper

NM_022114.4

p.D614N

c.1840G>A

1 paper

NM_022114.4

p.R582H

c.1745G>A

2 papers

NM_022114.4

p.E576K

c.1726G>A