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

2 papers

NM_022114.4

p.G429fs

c.1285_1286fs

Surrounding Variants

1 paper

NM_022114.4

p.G429_Q430Fs

c.1286_1289delinsTTGCACFs

1 paper

NM_022114.4

p.G429_Q430Fs

c.1286_1289delinsTTGCACTTFs

1 paper

NM_022114.4

p.D418N

c.1252G>A

1 paper

NM_022114.4

p.A417T

c.1249G>A

1 paper

NM_022114.4

p.H416R

c.1247A>G

1 paper

NM_022114.4

p.M415I

c.1245G>A

1 paper

NM_022114.4

p.M415I

c.1245G>C

1 paper

NM_022114.4

p.M415I

c.1245G>T

1 paper

NM_022114.4

p.R414W

c.1240C>T

1 paper

NM_022114.4

p.H412R

c.1235A>G

1 paper

NM_022114.4

p.C445W

c.1335C>G

2 papers

NM_022114.4

p.E446K

c.1336G>A