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

9 papers

NM_022114.4

p.V1101M

c.3301G>A

Surrounding Variants

2 papers

NM_022114.4

p.G1103S

c.3307G>A

1 paper

NM_022114.4

p.D1097G

c.3290A>G

3 papers

NM_022114.4

p.A1096V

c.3287C>T

1 paper

NM_022114.4

p.E1116K

c.3346G>A

1 paper

NM_022114.4

p.V1118M

c.3352G>A

1 paper

NM_022114.4

p.E1119K

c.3355G>A

1 paper

NM_022114.4

p.E1121D

c.3363G>C

1 paper

NM_022114.4

p.E1121_D1122insFs

c.3363_3364insGA

1 paper

NM_022114.4

p.E1121_D1122ins1

c.3363_3364insGAC

1 paper

NM_022114.4

p.E1121D

c.3363G>T

1 paper

NM_022114.4

p.D1124N

c.3370G>A

1 paper

NM_022114.4

p.D1125D

c.3375C>T