Varaico: Literature-Extracted Genetic Variants

PRDM2

242 papers

RefSeq Summary

This tumor suppressor gene is a member of a nuclear histone/protein methyltransferase superfamily. It encodes a zinc finger protein that can bind to retinoblastoma protein, estrogen receptor, and the ...

Pfam Domains

PRDM2_PRaa 30–151UCSCPR domain zinc finger protein 2, PR domain

zf-C2H2aa 360–382UCSCZinc finger, C2H2 type

zf-C2H2aa 390–412UCSCZinc finger, C2H2 type

zf-C2H2_6aa 482–508UCSCC2H2-type zinc finger

zf-C2H2_6aa 1454–1475UCSCC2H2-type zinc finger

Gene Aliases

HGNC Name

PR/SET domain 2

HGNC Alias Symbols

RIZ; RIZ1; RIZ2; KMT8; MTB-ZF; HUMHOXY1; KMT8A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001393986.1

p.P823L

c.2468C>T

Surrounding Variants

5 papers

NM_001393986.1

p.K831_Q832insGAA

c.2491_2495ins9

1 paper

NM_001393986.1

p.A834V

c.2501C>T

1 paper

NM_001393986.1

p.S806P

c.2416T>C

2 papers

NM_001393986.1

p.V847_D849del3

c.2539_2546del9

2 papers

NM_001393986.1

p.D849_L850del2

c.2545_2549del6

1 paper

NM_001393986.1

p.E793E

c.2379A>G

1 paper

NM_001393986.1

p.E861_K863del3

c.2581_2588del9

1 paper

NM_001393986.1

p.K863N

c.2589G>C

1 paper

NM_001393986.1

p.K863N

c.2589G>T

1 paper

NM_001393986.1

p.H778L

c.2333A>T

2 papers

NM_001393986.1

p.S777T

c.2330G>C

1 paper

NM_001393986.1

p.T874M

c.2621C>T