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.R743Q

c.2228G>A

Surrounding Variants

1 paper

NM_022114.4

p.R743L

c.2228G>T

1 paper

NM_022114.4

p.L745_H747del3

c.2233_2240del9

1 paper

NM_022114.4

p.Y738S

c.2213A>C

1 paper

NM_022114.4

p.L749F

c.2247G>C

1 paper

NM_022114.4

p.L749F

c.2247G>T

1 paper

NM_022114.4

p.H735fs

c.2203_2204fs

1 paper

NM_022114.4

p.H735insFs

c.2203dupC

1 paper

NM_022114.4

p.E754K

c.2260G>A

2 papers

NM_022114.4

p.F729L

c.2187C>A

2 papers

NM_022114.4

p.F729L

c.2187C>G

1 paper

NM_022114.4

p.S757A

c.2269T>G

2 papers

NM_022114.4

p.F729L

c.2185T>C