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.L925R

c.2774T>G

Surrounding Variants

3 papers

NM_022114.4

p.H927P

c.2780A>C

1 paper

NM_022114.4

p.H928Y

c.2782C>T

2 papers

NM_022114.4

p.H928P

c.2783A>C

2 papers

NM_022114.4

p.P929H

c.2786C>A

1 paper

NM_022114.4

p.R933W

c.2797C>T

2 papers

NM_022114.4

p.P937insFs

c.2809_2810dupCC

1 paper

NM_022114.4

p.M914T

c.2741T>C

1 paper

NM_022114.4

p.T938fs

c.2812_2813fs

1 paper

NM_022114.4

p.T938K

c.2813C>A

8 papers

NM_022114.4

p.L939V

c.2815C>G

1 paper

NM_022114.4

p.P942H

c.2825C>A

1 paper

NM_022114.4

p.G947G

c.2841C>A