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.F485L

c.1453T>C

Surrounding Variants

1 paper

NM_022114.4

p.G484G

c.1452C>T

1 paper

NM_022114.4

p.F485L

c.1455C>A

1 paper

NM_022114.4

p.F485L

c.1455C>G

1 paper

NM_022114.4

p.A481G

c.1442C>G

1 paper

NM_022114.4

p.H480N

c.1438C>A

3 papers

NM_022114.4

p.P495L

c.1484C>T

1 paper

NM_022114.4

p.G496R

c.1486G>A

1 paper

NM_022114.4

p.G496R

c.1486G>C

1 paper

NM_022114.4

p.L498M

c.1492C>A

1 paper

NM_022114.4

p.P499delFs

c.1496_1497delCC

1 paper

NM_022114.4

p.P499fs

c.1495_1496fs

1 paper

NM_022114.4

p.P467H

c.1400C>A