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

8 papers

NM_022114.4

p.K702*

c.2104A>T

Surrounding Variants

1 paper

NM_022114.4

p.A697T

c.2089G>A

2 papers

NM_022114.4

p.G707R

c.2119G>C

1 paper

NM_022114.4

p.A697S

c.2089G>T

1 paper

NM_022114.4

p.A695_I699insFs

c.2085_2097dup13

1 paper

NM_022114.4

p.D691V

c.2072A>T

1 paper

NM_022114.4

p.A689G

c.2066C>G

1 paper

NM_022114.4

p.K715N

c.2145G>C

1 paper

NM_022114.4

p.K715N

c.2145G>T

3 papers

NM_022114.4

p.A688T

c.2062G>A

1 paper

NM_022114.4

p.S718L

c.2153C>T

1 paper

NM_022114.4

p.S723fs

c.2167_2168fs

2 papers

NM_022114.4

p.S723delFs

c.2168delC