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.D636G

c.1907A>G

Surrounding Variants

1 paper

NM_022114.4

p.K635*

c.1903A>T

1 paper

NM_022114.4

p.D634G

c.1901A>G

10 papers

NM_022114.4

p.P633L

c.1898C>T

1 paper

NM_022114.4

p.G640A

c.1919G>C

1 paper

NM_022114.4

p.D632N

c.1894G>A

2 papers

NM_022114.4

p.V629M

c.1885G>A

1 paper

NM_022114.4

p.V629fs

c.1885_1886fs

1 paper

NM_022114.4

p.E644K

c.1930G>A

3 papers

NM_022114.4

p.D628N

c.1882G>A

1 paper

NM_022114.4

p.S627R

c.1881C>A

1 paper

NM_022114.4

p.S627R

c.1881C>G

1 paper

NM_022114.4

p.S627R

c.1879A>C