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.K780R

c.2339A>G

Surrounding Variants

1 paper

NM_022114.4

p.P779_K780insFs

c.2337_2338ins5

2 papers

NM_022114.4

p.P779L

c.2336C>T

1 paper

NM_022114.4

p.M788L

c.2362A>C

1 paper

NM_022114.4

p.M788L

c.2362A>T

1 paper

NM_022114.4

p.M788R

c.2363T>G

1 paper

NM_022114.4

p.S768fs

c.2302_2303fs

1 paper

NM_022114.4

p.P767L

c.2300C>T

2 papers

NM_022114.4

p.S793S

c.2379G>A

1 paper

NM_022114.4

p.G766S

c.2296G>A

1 paper

NM_022114.4

p.A796T

c.2386G>A

1 paper

NM_022114.4

p.V764M

c.2290G>A

1 paper

NM_022114.4

p.A761T

c.2281G>A