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.V48M

c.142G>A

Surrounding Variants

1 paper

NM_022114.4

p.P45_I46Fs

c.134_136delinsCCFs

1 paper

NM_022114.4

p.P45T

c.133C>A

1 paper

NM_022114.4

p.S44W

c.131C>G

1 paper

NM_022114.4

p.P53S

c.157C>T

2 papers

NM_022114.4

p.P55L

c.164C>T

1 paper

NM_022114.4

p.E58D

c.174G>C

2 papers

NM_022114.4

p.E37K

c.109G>A

4 papers

NM_022114.4

p.A34T

c.100G>A

1 paper

NM_022114.4

p.A34fs

c.100_101fs

1 paper

NM_022114.4

p.P62R

c.185C>G

1 paper

NM_022114.4

p.E64_E69del6

c.190_206del18

1 paper

NM_022114.4

p.E64*

c.190G>T