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

1–12 of 327 variants

16 papers

NM_001393986.1

p.T702ins1

c.2104_2105insCTC

8 papers

NM_001393986.1

p.D283E

c.849T>A

8 papers

NM_001393986.1

p.D283E

c.849T>G

8 papers

NM_001393986.1

p.C334Y

c.1001G>A

8 papers

NM_001393986.1

p.H501ins1

c.1501_1502insCTC

7 papers

NM_001393986.1

p.S1501_P1502insCTC

c.4501_4505ins9

6 papers

NM_001393986.1

p.G133D

c.398G>A

6 papers

NM_001393986.1

p.D277_E278ins1

c.831_832insGAA

5 papers

NM_001393986.1

p.D287del1

c.859_860delGAT

5 papers

NM_001393986.1

p.K831_Q832insGAA

c.2491_2495ins9

5 papers

NM_001393986.1

p.S1024T

c.3070T>A

4 papers

NM_001393986.1

p.S450N

c.1349G>A