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

4 papers

NM_022114.4

p.E271K

c.811G>A

Surrounding Variants

1 paper

NM_022114.4

p.P270insFs

c.810dupC

1 paper

NM_022114.4

p.L268I

c.802C>A

1 paper

NM_022114.4

p.E266*

c.796G>T

1 paper

NM_022114.4

p.E262K

c.784G>A

1 paper

NM_022114.4

p.E262*

c.784G>T

1 paper

NM_022114.4

p.H281_E282del2

c.841_845del6

1 paper

NM_022114.4

p.Y261fs

c.781_782fs

1 paper

NM_022114.4

p.L260V

c.778C>G

1 paper

NM_022114.4

p.L260_Y261del2

c.778_782del6

1 paper

NM_022114.4

p.C283R

c.847T>C

1 paper

NM_022114.4

p.R288P

c.863G>C

1 paper

NM_022114.4

p.M289T

c.866T>C