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

2 papers

NM_022114.4

p.L522F

c.1566G>T

Surrounding Variants

2 papers

NM_022114.4

p.L522F

c.1566G>C

5 papers

NM_022114.4

p.R525insFs

c.1573dupC

5 papers

NM_022114.4

p.R525fs

c.1573_1574fs

2 papers

NM_022114.4

p.R525Q

c.1574G>A

1 paper

NM_022114.4

p.P515L

c.1544C>T

2 papers

NM_022114.4

p.T532fs

c.1594_1595fs

1 paper

NM_022114.4

p.T532delFs

c.1595delC

1 paper

NM_022114.4

p.G513S

c.1537G>A

13 papers

NM_022114.4

p.S533P

c.1597T>C

1 paper

NM_022114.4

p.L510P

c.1529T>C

1 paper

NM_022114.4

p.T506M

c.1517C>T

1 paper

NM_022114.4

p.T542N

c.1625C>A