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.V842L

c.2524G>C

Surrounding Variants

1 paper

NM_022114.4

p.V842L

c.2524G>T

1 paper

NM_022114.4

p.P840H

c.2519C>A

1 paper

NM_022114.4

p.P840L

c.2519C>T

1 paper

NM_022114.4

p.A845V

c.2534C>T

1 paper

NM_022114.4

p.R846Q

c.2537G>A

1 paper

NM_022114.4

p.E837K

c.2509G>A

1 paper

NM_022114.4

p.G838_V842ins1

c.2513_2524dup12

1 paper

NM_022114.4

p.M847I

c.2541G>A

1 paper

NM_022114.4

p.M847I

c.2541G>C

1 paper

NM_022114.4

p.M847I

c.2541G>T

3 papers

NM_022114.4

p.G836S

c.2506G>A

1 paper

NM_022114.4

p.A835T

c.2503G>A