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.A813fs

c.2437_2438fs

Surrounding Variants

1 paper

NM_022114.4

p.R812H

c.2435G>A

2 papers

NM_022114.4

p.R812delFs

c.2436delT

2 papers

NM_022114.4

p.S814R

c.2440A>C

2 papers

NM_022114.4

p.S814R

c.2442C>A

2 papers

NM_022114.4

p.S814R

c.2442C>G

1 paper

NM_022114.4

p.R810Q

c.2429G>A

4 papers

NM_022114.4

p.N816S

c.2447A>G

3 papers

NM_022114.4

p.G818S

c.2452G>A

1 paper

NM_022114.4

p.G808fs

c.2422_2423fs

1 paper

NM_022114.4

p.G819R

c.2455G>A

1 paper

NM_022114.4

p.G819R

c.2455G>C

1 paper

NM_022114.4

p.R820W

c.2458C>T