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

3 papers

NM_022114.4

p.V562I

c.1684G>A

Surrounding Variants

1 paper

NM_022114.4

p.G568S

c.1702G>A

1 paper

NM_022114.4

p.P554Q

c.1661C>A

1 paper

NM_022114.4

p.A571S

c.1711G>T

1 paper

NM_022114.4

p.A572fs

c.1714_1715fs

1 paper

NM_022114.4

p.A573V

c.1718C>T

1 paper

NM_022114.4

p.P575S

c.1723C>T

1 paper

NM_022114.4

p.P548T

c.1642C>A

2 papers

NM_022114.4

p.E576K

c.1726G>A

1 paper

NM_022114.4

p.E576Q

c.1726G>C

1 paper

NM_022114.4

p.A545V

c.1634C>T

1 paper

NM_022114.4

p.Q543*

c.1627C>T

1 paper

NM_022114.4

p.T542N

c.1625C>A