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.S66L

c.197C>T

Surrounding Variants

1 paper

NM_022114.4

p.P67L

c.200C>T

1 paper

NM_022114.4

p.E64*

c.190G>T

1 paper

NM_022114.4

p.E64_E69del6

c.190_206del18

1 paper

NM_022114.4

p.P62R

c.185C>G

1 paper

NM_022114.4

p.P71L

c.212C>T

1 paper

NM_022114.4

p.P71delFs

c.213delT

1 paper

NM_022114.4

p.V72fs

c.214_215fs

1 paper

NM_022114.4

p.I74V

c.220A>G

1 paper

NM_022114.4

p.E58D

c.174G>C

2 papers

NM_022114.4

p.P55L

c.164C>T

1 paper

NM_022114.4

p.P79L

c.236C>T

1 paper

NM_022114.4

p.P53S

c.157C>T