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.K198N

c.594G>T

Surrounding Variants

1 paper

NM_022114.4

p.K198N

c.594G>C

1 paper

NM_022114.4

p.I197I

c.591T>A

1 paper

NM_022114.4

p.Y193*

c.579C>A

1 paper

NM_022114.4

p.Y193*

c.579C>G

1 paper

NM_022114.4

p.Q191_I192Splc

c.574-10T>G

1 paper

NM_022114.4

p.G213G

c.639C>T

1 paper

NM_022114.4

p.V214I

c.640G>A

1 paper

NM_022114.4

p.P216T

c.646C>A

2 papers

NM_022114.4

p.L217fs

c.649_650fs

1 paper

NM_022114.4

p.G223S

c.667G>A

1 paper

NM_022114.4

p.D225N

c.673G>A

1 paper

NM_022114.4

p.D225H

c.673G>C