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

5 papers

NM_022114.4

p.P889L

c.2666C>T

Surrounding Variants

1 paper

NM_022114.4

p.P889S

c.2665C>T

2 papers

NM_022114.4

p.R888Q

c.2663G>A

1 paper

NM_022114.4

p.P891delFs

c.2673delG

2 papers

NM_022114.4

p.L887P

c.2660T>C

1 paper

NM_022114.4

p.F894S

c.2681T>C

1 paper

NM_022114.4

p.K883E

c.2647A>G

1 paper

NM_022114.4

p.E884del1

c.2650_2651delGAG

1 paper

NM_022114.4

p.G880A

c.2639G>C

1 paper

NM_022114.4

p.Q897_M898Splc

c.2691+4C>T

1 paper

NM_022114.4

p.Q897_M898Splc

c.2691+5G>A

2 papers

NM_022114.4

p.V879M

c.2635G>A

1 paper

NM_022114.4

p.D877Y

c.2629G>T