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

2 papers

NM_001393986.1

p.K1489fs

c.4465_4466fs

Surrounding Variants

1 paper

NM_001393986.1

p.K1488_K1489insFs

c.4464_4465insG

1 paper

NM_001393986.1

p.V1490fs

c.4468_4469fs

3 papers

NM_001393986.1

p.V1490fs

c.4468_4469fs

1 paper

NM_001393986.1

p.K1487Q

c.4459A>C

1 paper

NM_001393986.1

p.K1487insFs

c.4459dupA

4 papers

NM_001393986.1

p.K1489delFs

c.4467delA

1 paper

NM_001393986.1

p.K1489delFs

c.4466_4467delAA

1 paper

NM_001393986.1

p.P1486fs

c.4456_4457fs

1 paper

NM_001393986.1

p.P1486delFs

c.4458delC

1 paper

NM_001393986.1

p.K1480*

c.4438A>T

1 paper

NM_001393986.1

p.S1500_S1501insTCT

c.4498_4502ins9

7 papers

NM_001393986.1

p.S1501_P1502insCTC

c.4501_4505ins9