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

1–12 of 489 variants

13 papers

NM_022114.4

p.S533P

c.1597T>C

10 papers

NM_022114.4

p.P633L

c.1898C>T

9 papers

NM_022114.4

p.V1101M

c.3301G>A

8 papers

NM_022114.4

p.K702*

c.2104A>T

8 papers

NM_022114.4

p.L939V

c.2815C>G

5 papers

NM_022114.4

p.E226Splc

c.676+1G>A

5 papers

NM_022114.4

p.P291L

c.872C>T

5 papers

NM_022114.4

p.R525insFs

c.1573dupC

5 papers

NM_022114.4

p.R525fs

c.1573_1574fs

5 papers

NM_022114.4

p.P889L

c.2666C>T

5 papers

NM_022114.4

p.R950*

c.2848C>T

4 papers

NM_022114.4

p.A34T

c.100G>A